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Genetic changes

Quick Filter: All aa change hg19 hg38 Location nt changes rsNum
	nt change	aa change	Location	hg19	hg38	rsNum
	c.4G>A	p.Ala2Thr	Exon 2	chr19:49206217	chr19:48702960
	c.40A>G	p.Ile14Val	Exon 2	chr19:49206253	chr19:48702996
	c.113C>T	p.Ala38Val	Exon 2	chr19:49206326	chr19:48703069
	c.244G>A	p.Ala82Thr	Exon 2	chr19:49206457	chr19:48703200
	c.278C>T	p.Ala93Val	Exon 2	chr19:49206491	chr19:48703234
	c.302C>T	p.Pro101Leu	Exon 2	chr19:49206515	chr19:48703258
	c.379C>T	p.Arg127Cys	Exon 2	chr19:49206592	chr19:48703335
	c.385A>T	p.Ile129Phe	Exon 2	chr19:49206598	chr19:48703341
	c.400G>A	p.Val134Ile	Exon 2	chr19:49206613	chr19:48703356
	c.412G>A	p.Gly138Ser	Exon 2	chr19:49206625	chr19:48703368
	c.428G>A	p.Trp143Ter	Exon 2	chr19:49206641	chr19:48703384
	c.481G>A	p.Asp161Asn	Exon 2	chr19:49206694	chr19:48703437
	c.569G>A	p.Arg190His	Exon 2	chr19:49206782	chr19:48703525
	c.571C>T	p.Arg191Ter	Exon 2	chr19:49206784	chr19:48703527
	c.617T>G	p.Val206Gly	Exon 2	chr19:49206830	chr19:48703573
	c.628C>T	p.Arg210Ter	Exon 2	chr19:49206841	chr19:48703584
	c.658C>T	p.Arg220Ter	Exon 2	chr19:49206871	chr19:48703614
	c.664C>T	p.Arg222Cys	Exon 2	chr19:49206877	chr19:48703620
	c.665G>A	p.Arg222His	Exon 2	chr19:49206878	chr19:48703621
	c.685G>A	p.Val229Met	Exon 2	chr19:49206898	chr19:48703641
	c.685_686delGT	p.Val229Glyfs*4	Exon 2	chr19:49206898	chr19:48703641
	c.688_690delGTC	p.Val230del	Exon 2	chr19:49206901	chr19:48703644
	c.716G>A	p.Arg239Gln	Exon 2	chr19:49206929	chr19:48703672
	c.739A>G	p.Gly247Ser	Exon 2	chr19:49206952	chr19:48703695
	c.747_748insGTG	p.249_250insVal	Exon 2	chr19:49206960	chr19:48703703
	c.760G>A	p.Asp254Asn	Exon 2	chr19:49206973	chr19:48703716
	c.778delC	p.Pro260Leufs*16	Exon 2	chr19:49206991	chr19:48703734
	c.818C>A	p.Thr273Asn	Exon 2	chr19:49207031	chr19:48703774
	c.841G>A	p.Gly281Arg	Exon 2	chr19:49207054	chr19:48703797
	c.849G>A	p.Trp283Ter	Exon 2	chr19:49207062	chr19:48703805
	c.853G>A	p.Ala285Thr	Exon 2	chr19:49207066	chr19:48703809
	c.950C>T	p.Pro317Leu	Exon 2	chr19:49207163	chr19:48703906
	c.868 G>A	p.Gly290Arg	Exon 2	chr19:None	chr19:None

fucosyltransferase 2
Chromosome:	chr19
Strand:	+
Genomic ref.:	NG_007511.1
Transcript ref.:	NM_000511.5
Entrez GeneID:	2524
Further links:	GTEx Portal, gnomAD
hg19:	Exons Start End CDS Start CDS End 2 None None None None
hg38:	Exons Start End CDS Start CDS End 2 None None None None
Exon hg19 start hg19 end hg38 start hg38 end