Canonical Allele Identifier: CA432078976

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707153G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767738G>C , CM000664.2:g.241767738G>C	GRCh38
NC_000002.11:g.242707153G>C , CM000664.1:g.242707153G>C	GRCh37
NC_000002.10:g.242355826G>C	NCBI36
NG_012012.1:g.38124G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1335G>C MANE Select	ENSP00000315351.4:p.Thr445=
ENST00000321264.8:c.1335G>C	ENSP00000315351.4:p.Thr445=
ENST00000400769.6:c.*85G>C	ENSP00000383580.2:n.*85G>C
ENST00000403782.5:c.933G>C	ENSP00000384723.1:p.Thr311=
ENST00000436747.5:c.*2571G>C	ENSP00000400212.1:n.*2571G>C
ENST00000445308.1:c.731G>C
ENST00000468064.5:n.1225G>C
ENST00000470343.5:n.816G>C
ENST00000473126.1:n.534G>C
ENST00000486953.5:n.1159G>C
ENST00000610344.1:c.*179G>C	ENSP00000481906.1:n.*179G>C
NM_001287249.1:c.933G>C	NP_001274178.1:p.Thr311=
NM_152783.4:c.1335G>C	NP_689996.4:p.Thr445=
NR_109778.1:n.1257G>C
XM_011511734.1:c.1455G>C	XP_011510036.1:p.Thr485=
XM_011511735.1:c.1413G>C	XP_011510037.1:p.Thr471=
XM_011511736.1:c.1377G>C	XP_011510038.1:p.Thr459=
XM_011511744.1:c.*67G>C	XP_011510046.1:n.*67G>C
XM_011511750.1:c.*2G>C	XP_011510052.1:n.*2G>C
XM_011511754.1:c.894G>C	XP_011510056.1:p.Thr298=
XM_011511755.1:c.885G>C	XP_011510057.1:p.Thr295=
XM_011511756.1:c.882G>C	XP_011510058.1:p.Thr294=
XR_923004.1:n.1967G>C
XR_923007.1:n.1677G>C
XR_923011.1:n.1778G>C
NM_001352824.1:c.774G>C	NP_001339753.1:p.Thr258=
XM_011511734.2:c.1455G>C	XP_011510036.1:p.Thr485=
XM_011511735.2:c.1413G>C	XP_011510037.1:p.Thr471=
XM_011511736.2:c.1377G>C	XP_011510038.1:p.Thr459=
XM_011511744.2:c.*67G>C	XP_011510046.1:n.*67G>C
XM_011511750.3:c.*2G>C	XP_011510052.1:n.*2G>C
XM_011511756.2:c.882G>C	XP_011510058.1:p.Thr294=
XM_024453102.1:c.1227G>C	XP_024308870.1:p.Thr409=
XR_001738918.2:n.1709G>C
XR_001738919.2:n.1643G>C
XR_923004.3:n.1966G>C
XR_923007.3:n.1676G>C
XR_923011.3:n.1777G>C
NM_152783.5:c.1335G>C MANE Select	NP_689996.4:p.Thr445=
NM_001287249.2:c.933G>C	NP_001274178.1:p.Thr311=
NM_001352824.2:c.774G>C	NP_001339753.1:p.Thr258=
NR_109778.2:n.1206G>C