Canonical Allele Identifier: CA351413109

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707202T>A (hg19) ; chr2:g.241767787T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767787T>A , CM000664.2:g.241767787T>A	GRCh38
NC_000002.11:g.242707202T>A , CM000664.1:g.242707202T>A	GRCh37
NC_000002.10:g.242355875T>A	NCBI36
NG_012012.1:g.38173T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1384T>A MANE Select	ENSP00000315351.4:p.Tyr462Asn
ENST00000321264.8:c.1384T>A	ENSP00000315351.4:p.Tyr462Asn
ENST00000400769.6:c.*134T>A	ENSP00000383580.2:n.*134T>A
ENST00000403782.5:c.982T>A	ENSP00000384723.1:p.Tyr328Asn
ENST00000436747.5:c.*2620T>A	ENSP00000400212.1:n.*2620T>A
ENST00000445308.1:c.780T>A
ENST00000468064.5:n.1274T>A
ENST00000470343.5:n.865T>A
ENST00000473126.1:n.583T>A
ENST00000486953.5:n.1208T>A
ENST00000610344.1:c.*228T>A	ENSP00000481906.1:n.*228T>A
NM_001287249.1:c.982T>A	NP_001274178.1:p.Tyr328Asn
NM_152783.4:c.1384T>A	NP_689996.4:p.Tyr462Asn
NR_109778.1:n.1306T>A
XM_011511734.1:c.1504T>A	XP_011510036.1:p.Tyr502Asn
XM_011511735.1:c.1462T>A	XP_011510037.1:p.Tyr488Asn
XM_011511736.1:c.1426T>A	XP_011510038.1:p.Tyr476Asn
XM_011511744.1:c.*116T>A	XP_011510046.1:n.*116T>A
XM_011511750.1:c.*51T>A	XP_011510052.1:n.*51T>A
XM_011511754.1:c.943T>A	XP_011510056.1:p.Tyr315Asn
XM_011511755.1:c.934T>A	XP_011510057.1:p.Tyr312Asn
XM_011511756.1:c.931T>A	XP_011510058.1:p.Tyr311Asn
XR_923004.1:n.2016T>A
XR_923007.1:n.1726T>A
XR_923011.1:n.1827T>A
NM_001352824.1:c.823T>A	NP_001339753.1:p.Tyr275Asn
XM_011511734.2:c.1504T>A	XP_011510036.1:p.Tyr502Asn
XM_011511735.2:c.1462T>A	XP_011510037.1:p.Tyr488Asn
XM_011511736.2:c.1426T>A	XP_011510038.1:p.Tyr476Asn
XM_011511750.3:c.*51T>A	XP_011510052.1:n.*51T>A
XM_011511756.2:c.931T>A	XP_011510058.1:p.Tyr311Asn
XM_024453102.1:c.1276T>A	XP_024308870.1:p.Tyr426Asn
XR_001738918.2:n.1758T>A
XR_001738919.2:n.1692T>A
XR_923004.3:n.2015T>A
XR_923007.3:n.1725T>A
XR_923011.3:n.1826T>A
NM_152783.5:c.1384T>A MANE Select	NP_689996.4:p.Tyr462Asn
NM_001287249.2:c.982T>A	NP_001274178.1:p.Tyr328Asn
NM_001352824.2:c.823T>A	NP_001339753.1:p.Tyr275Asn
NR_109778.2:n.1255T>A