Canonical Allele Identifier: CA351412894

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707131G>C (hg19) ; chr2:g.241767716G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767716G>C , CM000664.2:g.241767716G>C	GRCh38
NC_000002.11:g.242707131G>C , CM000664.1:g.242707131G>C	GRCh37
NC_000002.10:g.242355804G>C	NCBI36
NG_012012.1:g.38102G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000321264.9:c.1313G>C MANE Select	ENSP00000315351.4:p.Gly438Ala
ENST00000321264.8:c.1313G>C	ENSP00000315351.4:p.Gly438Ala
ENST00000400769.6:c.*63G>C	ENSP00000383580.2:n.*63G>C
ENST00000403782.5:c.911G>C	ENSP00000384723.1:p.Gly304Ala
ENST00000436747.5:c.*2549G>C	ENSP00000400212.1:n.*2549G>C
ENST00000445308.1:c.709G>C
ENST00000468064.5:n.1203G>C
ENST00000470343.5:n.794G>C
ENST00000473126.1:n.512G>C
ENST00000486953.5:n.1137G>C
ENST00000610344.1:c.*157G>C	ENSP00000481906.1:n.*157G>C
NM_001287249.1:c.911G>C	NP_001274178.1:p.Gly304Ala
NM_152783.4:c.1313G>C	NP_689996.4:p.Gly438Ala
NR_109778.1:n.1235G>C
XM_011511734.1:c.1433G>C	XP_011510036.1:p.Gly478Ala
XM_011511735.1:c.1391G>C	XP_011510037.1:p.Gly464Ala
XM_011511736.1:c.1355G>C	XP_011510038.1:p.Gly452Ala
XM_011511744.1:c.*45G>C	XP_011510046.1:n.*45G>C
XM_011511750.1:c.1225G>C	XP_011510052.1:p.Val409Leu
XM_011511754.1:c.872G>C	XP_011510056.1:p.Gly291Ala
XM_011511755.1:c.863G>C	XP_011510057.1:p.Gly288Ala
XM_011511756.1:c.860G>C	XP_011510058.1:p.Gly287Ala
XR_923004.1:n.1945G>C
XR_923007.1:n.1655G>C
XR_923011.1:n.1756G>C
NM_001352824.1:c.752G>C	NP_001339753.1:p.Gly251Ala
XM_011511734.2:c.1433G>C	XP_011510036.1:p.Gly478Ala
XM_011511735.2:c.1391G>C	XP_011510037.1:p.Gly464Ala
XM_011511736.2:c.1355G>C	XP_011510038.1:p.Gly452Ala
XM_011511744.2:c.*45G>C	XP_011510046.1:n.*45G>C
XM_011511750.3:c.1225G>C	XP_011510052.1:p.Val409Leu
XM_011511756.2:c.860G>C	XP_011510058.1:p.Gly287Ala
XM_024453102.1:c.1205G>C	XP_024308870.1:p.Gly402Ala
XR_001738918.2:n.1687G>C
XR_001738919.2:n.1621G>C
XR_923004.3:n.1944G>C
XR_923007.3:n.1654G>C
XR_923011.3:n.1755G>C
NM_152783.5:c.1313G>C MANE Select	NP_689996.4:p.Gly438Ala
NM_001287249.2:c.911G>C	NP_001274178.1:p.Gly304Ala
NM_001352824.2:c.752G>C	NP_001339753.1:p.Gly251Ala
NR_109778.2:n.1184G>C