Canonical Allele Identifier: CA351413074

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707184G>C (hg19) ; chr2:g.241767769G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767769G>C , CM000664.2:g.241767769G>C	GRCh38
NC_000002.11:g.242707184G>C , CM000664.1:g.242707184G>C	GRCh37
NC_000002.10:g.242355857G>C	NCBI36
NG_012012.1:g.38155G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1366G>C MANE Select	ENSP00000315351.4:p.Ala456Pro
ENST00000321264.8:c.1366G>C	ENSP00000315351.4:p.Ala456Pro
ENST00000400769.6:c.*116G>C	ENSP00000383580.2:n.*116G>C
ENST00000403782.5:c.964G>C	ENSP00000384723.1:p.Ala322Pro
ENST00000436747.5:c.*2602G>C	ENSP00000400212.1:n.*2602G>C
ENST00000445308.1:c.762G>C
ENST00000468064.5:n.1256G>C
ENST00000470343.5:n.847G>C
ENST00000473126.1:n.565G>C
ENST00000486953.5:n.1190G>C
ENST00000610344.1:c.*210G>C	ENSP00000481906.1:n.*210G>C
NM_001287249.1:c.964G>C	NP_001274178.1:p.Ala322Pro
NM_152783.4:c.1366G>C	NP_689996.4:p.Ala456Pro
NR_109778.1:n.1288G>C
XM_011511734.1:c.1486G>C	XP_011510036.1:p.Ala496Pro
XM_011511735.1:c.1444G>C	XP_011510037.1:p.Ala482Pro
XM_011511736.1:c.1408G>C	XP_011510038.1:p.Ala470Pro
XM_011511744.1:c.*98G>C	XP_011510046.1:n.*98G>C
XM_011511750.1:c.*33G>C	XP_011510052.1:n.*33G>C
XM_011511754.1:c.925G>C	XP_011510056.1:p.Ala309Pro
XM_011511755.1:c.916G>C	XP_011510057.1:p.Ala306Pro
XM_011511756.1:c.913G>C	XP_011510058.1:p.Ala305Pro
XR_923004.1:n.1998G>C
XR_923007.1:n.1708G>C
XR_923011.1:n.1809G>C
NM_001352824.1:c.805G>C	NP_001339753.1:p.Ala269Pro
XM_011511734.2:c.1486G>C	XP_011510036.1:p.Ala496Pro
XM_011511735.2:c.1444G>C	XP_011510037.1:p.Ala482Pro
XM_011511736.2:c.1408G>C	XP_011510038.1:p.Ala470Pro
XM_011511744.2:c.*98G>C	XP_011510046.1:n.*98G>C
XM_011511750.3:c.*33G>C	XP_011510052.1:n.*33G>C
XM_011511756.2:c.913G>C	XP_011510058.1:p.Ala305Pro
XM_024453102.1:c.1258G>C	XP_024308870.1:p.Ala420Pro
XR_001738918.2:n.1740G>C
XR_001738919.2:n.1674G>C
XR_923004.3:n.1997G>C
XR_923007.3:n.1707G>C
XR_923011.3:n.1808G>C
NM_152783.5:c.1366G>C MANE Select	NP_689996.4:p.Ala456Pro
NM_001287249.2:c.964G>C	NP_001274178.1:p.Ala322Pro
NM_001352824.2:c.805G>C	NP_001339753.1:p.Ala269Pro
NR_109778.2:n.1237G>C