Canonical Allele Identifier: CA351413316

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707232G>C (hg19) ; chr2:g.241767817G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767817G>C , CM000664.2:g.241767817G>C	GRCh38
NC_000002.11:g.242707232G>C , CM000664.1:g.242707232G>C	GRCh37
NC_000002.10:g.242355905G>C	NCBI36
NG_012012.1:g.38203G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1414G>C MANE Select	ENSP00000315351.4:p.Val472Leu
ENST00000321264.8:c.1414G>C	ENSP00000315351.4:p.Val472Leu
ENST00000400769.6:c.*164G>C	ENSP00000383580.2:n.*164G>C
ENST00000403782.5:c.1012G>C	ENSP00000384723.1:p.Val338Leu
ENST00000436747.5:c.*2650G>C	ENSP00000400212.1:n.*2650G>C
ENST00000445308.1:c.810G>C
ENST00000468064.5:n.1304G>C
ENST00000470343.5:n.895G>C
ENST00000473126.1:n.613G>C
ENST00000486953.5:n.1238G>C
ENST00000610344.1:c.*258G>C	ENSP00000481906.1:n.*258G>C
NM_001287249.1:c.1012G>C	NP_001274178.1:p.Val338Leu
NM_152783.4:c.1414G>C	NP_689996.4:p.Val472Leu
NR_109778.1:n.1336G>C
XM_011511734.1:c.1534G>C	XP_011510036.1:p.Val512Leu
XM_011511735.1:c.1492G>C	XP_011510037.1:p.Val498Leu
XM_011511736.1:c.1456G>C	XP_011510038.1:p.Val486Leu
XM_011511750.1:c.*81G>C	XP_011510052.1:n.*81G>C
XM_011511754.1:c.973G>C	XP_011510056.1:p.Val325Leu
XM_011511755.1:c.964G>C	XP_011510057.1:p.Val322Leu
XM_011511756.1:c.961G>C	XP_011510058.1:p.Val321Leu
XR_923004.1:n.2046G>C
XR_923007.1:n.1756G>C
XR_923011.1:n.1857G>C
NM_001352824.1:c.853G>C	NP_001339753.1:p.Val285Leu
XM_011511734.2:c.1534G>C	XP_011510036.1:p.Val512Leu
XM_011511735.2:c.1492G>C	XP_011510037.1:p.Val498Leu
XM_011511736.2:c.1456G>C	XP_011510038.1:p.Val486Leu
XM_011511750.3:c.*81G>C	XP_011510052.1:n.*81G>C
XM_011511756.2:c.961G>C	XP_011510058.1:p.Val321Leu
XM_024453102.1:c.1306G>C	XP_024308870.1:p.Val436Leu
XR_001738918.2:n.1788G>C
XR_001738919.2:n.1722G>C
XR_923004.3:n.2045G>C
XR_923007.3:n.1755G>C
XR_923011.3:n.1856G>C
NM_152783.5:c.1414G>C MANE Select	NP_689996.4:p.Val472Leu
NM_001287249.2:c.1012G>C	NP_001274178.1:p.Val338Leu
NM_001352824.2:c.853G>C	NP_001339753.1:p.Val285Leu
NR_109778.2:n.1285G>C