Canonical Allele Identifier: CA68571492

Gene: D2HGDH

Linked Data

• dbSNP Id: rs958970307
• gnomAD v2: 2-242707170-C-T
• gnomAD v4: 2-241767755-C-T
• MyVariant Identifiers: chr2:g.242707170C>T (hg19) ; chr2:g.241767755C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767755C>T , CM000664.2:g.241767755C>T	GRCh38
NC_000002.11:g.242707170C>T , CM000664.1:g.242707170C>T	GRCh37
NC_000002.10:g.242355843C>T	NCBI36
NG_012012.1:g.38141C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1352C>T MANE Select	ENSP00000315351.4:p.Pro451Leu
ENST00000321264.8:c.1352C>T	ENSP00000315351.4:p.Pro451Leu
ENST00000400769.6:c.*102C>T	ENSP00000383580.2:n.*102C>T
ENST00000403782.5:c.950C>T	ENSP00000384723.1:p.Pro317Leu
ENST00000436747.5:c.*2588C>T	ENSP00000400212.1:n.*2588C>T
ENST00000445308.1:c.748C>T
ENST00000468064.5:n.1242C>T
ENST00000470343.5:n.833C>T
ENST00000473126.1:n.551C>T
ENST00000486953.5:n.1176C>T
ENST00000610344.1:c.*196C>T	ENSP00000481906.1:n.*196C>T
NM_001287249.1:c.950C>T	NP_001274178.1:p.Pro317Leu
NM_152783.4:c.1352C>T	NP_689996.4:p.Pro451Leu
NR_109778.1:n.1274C>T
XM_011511734.1:c.1472C>T	XP_011510036.1:p.Pro491Leu
XM_011511735.1:c.1430C>T	XP_011510037.1:p.Pro477Leu
XM_011511736.1:c.1394C>T	XP_011510038.1:p.Pro465Leu
XM_011511744.1:c.*84C>T	XP_011510046.1:n.*84C>T
XM_011511750.1:c.*19C>T	XP_011510052.1:n.*19C>T
XM_011511754.1:c.911C>T	XP_011510056.1:p.Pro304Leu
XM_011511755.1:c.902C>T	XP_011510057.1:p.Pro301Leu
XM_011511756.1:c.899C>T	XP_011510058.1:p.Pro300Leu
XR_923004.1:n.1984C>T
XR_923007.1:n.1694C>T
XR_923011.1:n.1795C>T
NM_001352824.1:c.791C>T	NP_001339753.1:p.Pro264Leu
XM_011511734.2:c.1472C>T	XP_011510036.1:p.Pro491Leu
XM_011511735.2:c.1430C>T	XP_011510037.1:p.Pro477Leu
XM_011511736.2:c.1394C>T	XP_011510038.1:p.Pro465Leu
XM_011511744.2:c.*84C>T	XP_011510046.1:n.*84C>T
XM_011511750.3:c.*19C>T	XP_011510052.1:n.*19C>T
XM_011511756.2:c.899C>T	XP_011510058.1:p.Pro300Leu
XM_024453102.1:c.1244C>T	XP_024308870.1:p.Pro415Leu
XR_001738918.2:n.1726C>T
XR_001738919.2:n.1660C>T
XR_923004.3:n.1983C>T
XR_923007.3:n.1693C>T
XR_923011.3:n.1794C>T
NM_152783.5:c.1352C>T MANE Select	NP_689996.4:p.Pro451Leu
NM_001287249.2:c.950C>T	NP_001274178.1:p.Pro317Leu
NM_001352824.2:c.791C>T	NP_001339753.1:p.Pro264Leu
NR_109778.2:n.1223C>T