Canonical Allele Identifier: CA432079067

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707183T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767768T>C , CM000664.2:g.241767768T>C	GRCh38
NC_000002.11:g.242707183T>C , CM000664.1:g.242707183T>C	GRCh37
NC_000002.10:g.242355856T>C	NCBI36
NG_012012.1:g.38154T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1365T>C MANE Select	ENSP00000315351.4:p.Ala455=
ENST00000321264.8:c.1365T>C	ENSP00000315351.4:p.Ala455=
ENST00000400769.6:c.*115T>C	ENSP00000383580.2:n.*115T>C
ENST00000403782.5:c.963T>C	ENSP00000384723.1:p.Ala321=
ENST00000436747.5:c.*2601T>C	ENSP00000400212.1:n.*2601T>C
ENST00000445308.1:c.761T>C
ENST00000468064.5:n.1255T>C
ENST00000470343.5:n.846T>C
ENST00000473126.1:n.564T>C
ENST00000486953.5:n.1189T>C
ENST00000610344.1:c.*209T>C	ENSP00000481906.1:n.*209T>C
NM_001287249.1:c.963T>C	NP_001274178.1:p.Ala321=
NM_152783.4:c.1365T>C	NP_689996.4:p.Ala455=
NR_109778.1:n.1287T>C
XM_011511734.1:c.1485T>C	XP_011510036.1:p.Ala495=
XM_011511735.1:c.1443T>C	XP_011510037.1:p.Ala481=
XM_011511736.1:c.1407T>C	XP_011510038.1:p.Ala469=
XM_011511744.1:c.*97T>C	XP_011510046.1:n.*97T>C
XM_011511750.1:c.*32T>C	XP_011510052.1:n.*32T>C
XM_011511754.1:c.924T>C	XP_011510056.1:p.Ala308=
XM_011511755.1:c.915T>C	XP_011510057.1:p.Ala305=
XM_011511756.1:c.912T>C	XP_011510058.1:p.Ala304=
XR_923004.1:n.1997T>C
XR_923007.1:n.1707T>C
XR_923011.1:n.1808T>C
NM_001352824.1:c.804T>C	NP_001339753.1:p.Ala268=
XM_011511734.2:c.1485T>C	XP_011510036.1:p.Ala495=
XM_011511735.2:c.1443T>C	XP_011510037.1:p.Ala481=
XM_011511736.2:c.1407T>C	XP_011510038.1:p.Ala469=
XM_011511744.2:c.*97T>C	XP_011510046.1:n.*97T>C
XM_011511750.3:c.*32T>C	XP_011510052.1:n.*32T>C
XM_011511756.2:c.912T>C	XP_011510058.1:p.Ala304=
XM_024453102.1:c.1257T>C	XP_024308870.1:p.Ala419=
XR_001738918.2:n.1739T>C
XR_001738919.2:n.1673T>C
XR_923004.3:n.1996T>C
XR_923007.3:n.1706T>C
XR_923011.3:n.1807T>C
NM_152783.5:c.1365T>C MANE Select	NP_689996.4:p.Ala455=
NM_001287249.2:c.963T>C	NP_001274178.1:p.Ala321=
NM_001352824.2:c.804T>C	NP_001339753.1:p.Ala268=
NR_109778.2:n.1236T>C