Canonical Allele Identifier: CA351413068

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707181G>T (hg19) ; chr2:g.241767766G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767766G>T , CM000664.2:g.241767766G>T	GRCh38
NC_000002.11:g.242707181G>T , CM000664.1:g.242707181G>T	GRCh37
NC_000002.10:g.242355854G>T	NCBI36
NG_012012.1:g.38152G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1363G>T MANE Select	ENSP00000315351.4:p.Ala455Ser
ENST00000321264.8:c.1363G>T	ENSP00000315351.4:p.Ala455Ser
ENST00000400769.6:c.*113G>T	ENSP00000383580.2:n.*113G>T
ENST00000403782.5:c.961G>T	ENSP00000384723.1:p.Ala321Ser
ENST00000436747.5:c.*2599G>T	ENSP00000400212.1:n.*2599G>T
ENST00000445308.1:c.759G>T
ENST00000468064.5:n.1253G>T
ENST00000470343.5:n.844G>T
ENST00000473126.1:n.562G>T
ENST00000486953.5:n.1187G>T
ENST00000610344.1:c.*207G>T	ENSP00000481906.1:n.*207G>T
NM_001287249.1:c.961G>T	NP_001274178.1:p.Ala321Ser
NM_152783.4:c.1363G>T	NP_689996.4:p.Ala455Ser
NR_109778.1:n.1285G>T
XM_011511734.1:c.1483G>T	XP_011510036.1:p.Ala495Ser
XM_011511735.1:c.1441G>T	XP_011510037.1:p.Ala481Ser
XM_011511736.1:c.1405G>T	XP_011510038.1:p.Ala469Ser
XM_011511744.1:c.*95G>T	XP_011510046.1:n.*95G>T
XM_011511750.1:c.*30G>T	XP_011510052.1:n.*30G>T
XM_011511754.1:c.922G>T	XP_011510056.1:p.Ala308Ser
XM_011511755.1:c.913G>T	XP_011510057.1:p.Ala305Ser
XM_011511756.1:c.910G>T	XP_011510058.1:p.Ala304Ser
XR_923004.1:n.1995G>T
XR_923007.1:n.1705G>T
XR_923011.1:n.1806G>T
NM_001352824.1:c.802G>T	NP_001339753.1:p.Ala268Ser
XM_011511734.2:c.1483G>T	XP_011510036.1:p.Ala495Ser
XM_011511735.2:c.1441G>T	XP_011510037.1:p.Ala481Ser
XM_011511736.2:c.1405G>T	XP_011510038.1:p.Ala469Ser
XM_011511744.2:c.*95G>T	XP_011510046.1:n.*95G>T
XM_011511750.3:c.*30G>T	XP_011510052.1:n.*30G>T
XM_011511756.2:c.910G>T	XP_011510058.1:p.Ala304Ser
XM_024453102.1:c.1255G>T	XP_024308870.1:p.Ala419Ser
XR_001738918.2:n.1737G>T
XR_001738919.2:n.1671G>T
XR_923004.3:n.1994G>T
XR_923007.3:n.1704G>T
XR_923011.3:n.1805G>T
NM_152783.5:c.1363G>T MANE Select	NP_689996.4:p.Ala455Ser
NM_001287249.2:c.961G>T	NP_001274178.1:p.Ala321Ser
NM_001352824.2:c.802G>T	NP_001339753.1:p.Ala268Ser
NR_109778.2:n.1234G>T