Canonical Allele Identifier: CA351413110

Gene: D2HGDH

Linked Data

• gnomAD v4: 2-241767787-T-C
• MyVariant Identifiers: chr2:g.242707202T>C (hg19) ; chr2:g.241767787T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000321264.9:c.1384T>C MANE Select	ENSP00000315351.4:p.Tyr462His
ENST00000321264.8:c.1384T>C	ENSP00000315351.4:p.Tyr462His
ENST00000400769.6:c.*134T>C	ENSP00000383580.2:n.*134T>C
ENST00000403782.5:c.982T>C	ENSP00000384723.1:p.Tyr328His
ENST00000436747.5:c.*2620T>C	ENSP00000400212.1:n.*2620T>C
ENST00000445308.1:c.780T>C
ENST00000468064.5:n.1274T>C
ENST00000470343.5:n.865T>C
ENST00000473126.1:n.583T>C
ENST00000486953.5:n.1208T>C
ENST00000610344.1:c.*228T>C	ENSP00000481906.1:n.*228T>C
NM_001287249.1:c.982T>C	NP_001274178.1:p.Tyr328His
NM_152783.4:c.1384T>C	NP_689996.4:p.Tyr462His
NR_109778.1:n.1306T>C
XM_011511734.1:c.1504T>C	XP_011510036.1:p.Tyr502His
XM_011511735.1:c.1462T>C	XP_011510037.1:p.Tyr488His
XM_011511736.1:c.1426T>C	XP_011510038.1:p.Tyr476His
XM_011511744.1:c.*116T>C	XP_011510046.1:n.*116T>C
XM_011511750.1:c.*51T>C	XP_011510052.1:n.*51T>C
XM_011511754.1:c.943T>C	XP_011510056.1:p.Tyr315His
XM_011511755.1:c.934T>C	XP_011510057.1:p.Tyr312His
XM_011511756.1:c.931T>C	XP_011510058.1:p.Tyr311His
XR_923004.1:n.2016T>C
XR_923007.1:n.1726T>C
XR_923011.1:n.1827T>C
NM_001352824.1:c.823T>C	NP_001339753.1:p.Tyr275His
XM_011511734.2:c.1504T>C	XP_011510036.1:p.Tyr502His
XM_011511735.2:c.1462T>C	XP_011510037.1:p.Tyr488His
XM_011511736.2:c.1426T>C	XP_011510038.1:p.Tyr476His
XM_011511750.3:c.*51T>C	XP_011510052.1:n.*51T>C
XM_011511756.2:c.931T>C	XP_011510058.1:p.Tyr311His
XM_024453102.1:c.1276T>C	XP_024308870.1:p.Tyr426His
XR_001738918.2:n.1758T>C
XR_001738919.2:n.1692T>C
XR_923004.3:n.2015T>C
XR_923007.3:n.1725T>C
XR_923011.3:n.1826T>C
NM_152783.5:c.1384T>C MANE Select	NP_689996.4:p.Tyr462His
NM_001287249.2:c.982T>C	NP_001274178.1:p.Tyr328His
NM_001352824.2:c.823T>C	NP_001339753.1:p.Tyr275His
NR_109778.2:n.1255T>C