Canonical Allele Identifier: CA68571480

Gene: D2HGDH

Linked Data

• dbSNP Id: rs201318398
• gnomAD v3: 2-241767746-C-T
• gnomAD v4: 2-241767746-C-T
• MyVariant Identifiers: chr2:g.242707161C>T (hg19) ; chr2:g.241767746C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767746C>T , CM000664.2:g.241767746C>T	GRCh38
NC_000002.11:g.242707161C>T , CM000664.1:g.242707161C>T	GRCh37
NC_000002.10:g.242355834C>T	NCBI36
NG_012012.1:g.38132C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1343C>T MANE Select	ENSP00000315351.4:p.Ala448Val
ENST00000321264.8:c.1343C>T	ENSP00000315351.4:p.Ala448Val
ENST00000400769.6:c.*93C>T	ENSP00000383580.2:n.*93C>T
ENST00000403782.5:c.941C>T	ENSP00000384723.1:p.Ala314Val
ENST00000436747.5:c.*2579C>T	ENSP00000400212.1:n.*2579C>T
ENST00000445308.1:c.739C>T
ENST00000468064.5:n.1233C>T
ENST00000470343.5:n.824C>T
ENST00000473126.1:n.542C>T
ENST00000486953.5:n.1167C>T
ENST00000610344.1:c.*187C>T	ENSP00000481906.1:n.*187C>T
NM_001287249.1:c.941C>T	NP_001274178.1:p.Ala314Val
NM_152783.4:c.1343C>T	NP_689996.4:p.Ala448Val
NR_109778.1:n.1265C>T
XM_011511734.1:c.1463C>T	XP_011510036.1:p.Ala488Val
XM_011511735.1:c.1421C>T	XP_011510037.1:p.Ala474Val
XM_011511736.1:c.1385C>T	XP_011510038.1:p.Ala462Val
XM_011511744.1:c.*75C>T	XP_011510046.1:n.*75C>T
XM_011511750.1:c.*10C>T	XP_011510052.1:n.*10C>T
XM_011511754.1:c.902C>T	XP_011510056.1:p.Ala301Val
XM_011511755.1:c.893C>T	XP_011510057.1:p.Ala298Val
XM_011511756.1:c.890C>T	XP_011510058.1:p.Ala297Val
XR_923004.1:n.1975C>T
XR_923007.1:n.1685C>T
XR_923011.1:n.1786C>T
NM_001352824.1:c.782C>T	NP_001339753.1:p.Ala261Val
XM_011511734.2:c.1463C>T	XP_011510036.1:p.Ala488Val
XM_011511735.2:c.1421C>T	XP_011510037.1:p.Ala474Val
XM_011511736.2:c.1385C>T	XP_011510038.1:p.Ala462Val
XM_011511744.2:c.*75C>T	XP_011510046.1:n.*75C>T
XM_011511750.3:c.*10C>T	XP_011510052.1:n.*10C>T
XM_011511756.2:c.890C>T	XP_011510058.1:p.Ala297Val
XM_024453102.1:c.1235C>T	XP_024308870.1:p.Ala412Val
XR_001738918.2:n.1717C>T
XR_001738919.2:n.1651C>T
XR_923004.3:n.1974C>T
XR_923007.3:n.1684C>T
XR_923011.3:n.1785C>T
NM_152783.5:c.1343C>T MANE Select	NP_689996.4:p.Ala448Val
NM_001287249.2:c.941C>T	NP_001274178.1:p.Ala314Val
NM_001352824.2:c.782C>T	NP_001339753.1:p.Ala261Val
NR_109778.2:n.1214C>T