Canonical Allele Identifier: CA351412873

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707128A>C (hg19) ; chr2:g.241767713A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767713A>C , CM000664.2:g.241767713A>C	GRCh38
NC_000002.11:g.242707128A>C , CM000664.1:g.242707128A>C	GRCh37
NC_000002.10:g.242355801A>C	NCBI36
NG_012012.1:g.38099A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000321264.9:c.1310A>C MANE Select	ENSP00000315351.4:p.Asp437Ala
ENST00000321264.8:c.1310A>C	ENSP00000315351.4:p.Asp437Ala
ENST00000400769.6:c.*60A>C	ENSP00000383580.2:n.*60A>C
ENST00000403782.5:c.908A>C	ENSP00000384723.1:p.Asp303Ala
ENST00000436747.5:c.*2546A>C	ENSP00000400212.1:n.*2546A>C
ENST00000445308.1:c.706A>C
ENST00000468064.5:n.1200A>C
ENST00000470343.5:n.791A>C
ENST00000473126.1:n.509A>C
ENST00000486953.5:n.1134A>C
ENST00000610344.1:c.*154A>C	ENSP00000481906.1:n.*154A>C
NM_001287249.1:c.908A>C	NP_001274178.1:p.Asp303Ala
NM_152783.4:c.1310A>C	NP_689996.4:p.Asp437Ala
NR_109778.1:n.1232A>C
XM_011511734.1:c.1430A>C	XP_011510036.1:p.Asp477Ala
XM_011511735.1:c.1388A>C	XP_011510037.1:p.Asp463Ala
XM_011511736.1:c.1352A>C	XP_011510038.1:p.Asp451Ala
XM_011511744.1:c.*42A>C	XP_011510046.1:n.*42A>C
XM_011511750.1:c.1222A>C	XP_011510052.1:p.Met408Leu
XM_011511754.1:c.869A>C	XP_011510056.1:p.Asp290Ala
XM_011511755.1:c.860A>C	XP_011510057.1:p.Asp287Ala
XM_011511756.1:c.857A>C	XP_011510058.1:p.Asp286Ala
XR_923004.1:n.1942A>C
XR_923007.1:n.1652A>C
XR_923011.1:n.1753A>C
NM_001352824.1:c.749A>C	NP_001339753.1:p.Asp250Ala
XM_011511734.2:c.1430A>C	XP_011510036.1:p.Asp477Ala
XM_011511735.2:c.1388A>C	XP_011510037.1:p.Asp463Ala
XM_011511736.2:c.1352A>C	XP_011510038.1:p.Asp451Ala
XM_011511744.2:c.*42A>C	XP_011510046.1:n.*42A>C
XM_011511750.3:c.1222A>C	XP_011510052.1:p.Met408Leu
XM_011511756.2:c.857A>C	XP_011510058.1:p.Asp286Ala
XM_024453102.1:c.1202A>C	XP_024308870.1:p.Asp401Ala
XR_001738918.2:n.1684A>C
XR_001738919.2:n.1618A>C
XR_923004.3:n.1941A>C
XR_923007.3:n.1651A>C
XR_923011.3:n.1752A>C
NM_152783.5:c.1310A>C MANE Select	NP_689996.4:p.Asp437Ala
NM_001287249.2:c.908A>C	NP_001274178.1:p.Asp303Ala
NM_001352824.2:c.749A>C	NP_001339753.1:p.Asp250Ala
NR_109778.2:n.1181A>C