Canonical Allele Identifier: CA351413817

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707326C>A (hg19) ; chr2:g.241767911C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767911C>A , CM000664.2:g.241767911C>A	GRCh38
NC_000002.11:g.242707326C>A , CM000664.1:g.242707326C>A	GRCh37
NC_000002.10:g.242355999C>A	NCBI36
NG_012012.1:g.38297C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1508C>A MANE Select	ENSP00000315351.4:p.Ala503Asp
ENST00000321264.8:c.1508C>A	ENSP00000315351.4:p.Ala503Asp
ENST00000400769.6:c.*258C>A	ENSP00000383580.2:n.*258C>A
ENST00000403782.5:c.1106C>A	ENSP00000384723.1:p.Ala369Asp
ENST00000436747.5:c.*2744C>A	ENSP00000400212.1:n.*2744C>A
ENST00000445308.1:c.904C>A
ENST00000468064.5:n.1398C>A
ENST00000470343.5:n.989C>A
ENST00000473126.1:n.707C>A
ENST00000486953.5:n.1332C>A
ENST00000610344.1:c.*352C>A	ENSP00000481906.1:n.*352C>A
NM_001287249.1:c.1106C>A	NP_001274178.1:p.Ala369Asp
NM_152783.4:c.1508C>A	NP_689996.4:p.Ala503Asp
NR_109778.1:n.1430C>A
XM_011511734.1:c.1628C>A	XP_011510036.1:p.Ala543Asp
XM_011511735.1:c.1586C>A	XP_011510037.1:p.Ala529Asp
XM_011511736.1:c.1550C>A	XP_011510038.1:p.Ala517Asp
XM_011511754.1:c.1067C>A	XP_011510056.1:p.Ala356Asp
XM_011511755.1:c.1058C>A	XP_011510057.1:p.Ala353Asp
XM_011511756.1:c.1055C>A	XP_011510058.1:p.Ala352Asp
XR_923004.1:n.2140C>A
XR_923007.1:n.1850C>A
XR_923011.1:n.1951C>A
NM_001352824.1:c.947C>A	NP_001339753.1:p.Ala316Asp
XM_011511734.2:c.1628C>A	XP_011510036.1:p.Ala543Asp
XM_011511735.2:c.1586C>A	XP_011510037.1:p.Ala529Asp
XM_011511736.2:c.1550C>A	XP_011510038.1:p.Ala517Asp
XM_011511756.2:c.1055C>A	XP_011510058.1:p.Ala352Asp
XM_024453102.1:c.1400C>A	XP_024308870.1:p.Ala467Asp
XR_001738918.2:n.1882C>A
XR_001738919.2:n.1816C>A
XR_923004.3:n.2139C>A
XR_923007.3:n.1849C>A
XR_923011.3:n.1950C>A
NM_152783.5:c.1508C>A MANE Select	NP_689996.4:p.Ala503Asp
NM_001287249.2:c.1106C>A	NP_001274178.1:p.Ala369Asp
NM_001352824.2:c.947C>A	NP_001339753.1:p.Ala316Asp
NR_109778.2:n.1379C>A