Canonical Allele Identifier: CA432078888

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707129T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767714T>C , CM000664.2:g.241767714T>C	GRCh38
NC_000002.11:g.242707129T>C , CM000664.1:g.242707129T>C	GRCh37
NC_000002.10:g.242355802T>C	NCBI36
NG_012012.1:g.38100T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000321264.9:c.1311T>C MANE Select	ENSP00000315351.4:p.Asp437=
ENST00000321264.8:c.1311T>C	ENSP00000315351.4:p.Asp437=
ENST00000400769.6:c.*61T>C	ENSP00000383580.2:n.*61T>C
ENST00000403782.5:c.909T>C	ENSP00000384723.1:p.Asp303=
ENST00000436747.5:c.*2547T>C	ENSP00000400212.1:n.*2547T>C
ENST00000445308.1:c.707T>C
ENST00000468064.5:n.1201T>C
ENST00000470343.5:n.792T>C
ENST00000473126.1:n.510T>C
ENST00000486953.5:n.1135T>C
ENST00000610344.1:c.*155T>C	ENSP00000481906.1:n.*155T>C
NM_001287249.1:c.909T>C	NP_001274178.1:p.Asp303=
NM_152783.4:c.1311T>C	NP_689996.4:p.Asp437=
NR_109778.1:n.1233T>C
XM_011511734.1:c.1431T>C	XP_011510036.1:p.Asp477=
XM_011511735.1:c.1389T>C	XP_011510037.1:p.Asp463=
XM_011511736.1:c.1353T>C	XP_011510038.1:p.Asp451=
XM_011511744.1:c.*43T>C	XP_011510046.1:n.*43T>C
XM_011511750.1:c.1223T>C	XP_011510052.1:p.Met408Thr
XM_011511754.1:c.870T>C	XP_011510056.1:p.Asp290=
XM_011511755.1:c.861T>C	XP_011510057.1:p.Asp287=
XM_011511756.1:c.858T>C	XP_011510058.1:p.Asp286=
XR_923004.1:n.1943T>C
XR_923007.1:n.1653T>C
XR_923011.1:n.1754T>C
NM_001352824.1:c.750T>C	NP_001339753.1:p.Asp250=
XM_011511734.2:c.1431T>C	XP_011510036.1:p.Asp477=
XM_011511735.2:c.1389T>C	XP_011510037.1:p.Asp463=
XM_011511736.2:c.1353T>C	XP_011510038.1:p.Asp451=
XM_011511744.2:c.*43T>C	XP_011510046.1:n.*43T>C
XM_011511750.3:c.1223T>C	XP_011510052.1:p.Met408Thr
XM_011511756.2:c.858T>C	XP_011510058.1:p.Asp286=
XM_024453102.1:c.1203T>C	XP_024308870.1:p.Asp401=
XR_001738918.2:n.1685T>C
XR_001738919.2:n.1619T>C
XR_923004.3:n.1942T>C
XR_923007.3:n.1652T>C
XR_923011.3:n.1753T>C
NM_152783.5:c.1311T>C MANE Select	NP_689996.4:p.Asp437=
NM_001287249.2:c.909T>C	NP_001274178.1:p.Asp303=
NM_001352824.2:c.750T>C	NP_001339753.1:p.Asp250=
NR_109778.2:n.1182T>C