Canonical Allele Identifier: CA351413063

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707179T>A (hg19) ; chr2:g.241767764T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767764T>A , CM000664.2:g.241767764T>A	GRCh38
NC_000002.11:g.242707179T>A , CM000664.1:g.242707179T>A	GRCh37
NC_000002.10:g.242355852T>A	NCBI36
NG_012012.1:g.38150T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000321264.9:c.1361T>A MANE Select	ENSP00000315351.4:p.Leu454Gln
ENST00000321264.8:c.1361T>A	ENSP00000315351.4:p.Leu454Gln
ENST00000400769.6:c.*111T>A	ENSP00000383580.2:n.*111T>A
ENST00000403782.5:c.959T>A	ENSP00000384723.1:p.Leu320Gln
ENST00000436747.5:c.*2597T>A	ENSP00000400212.1:n.*2597T>A
ENST00000445308.1:c.757T>A
ENST00000468064.5:n.1251T>A
ENST00000470343.5:n.842T>A
ENST00000473126.1:n.560T>A
ENST00000486953.5:n.1185T>A
ENST00000610344.1:c.*205T>A	ENSP00000481906.1:n.*205T>A
NM_001287249.1:c.959T>A	NP_001274178.1:p.Leu320Gln
NM_152783.4:c.1361T>A	NP_689996.4:p.Leu454Gln
NR_109778.1:n.1283T>A
XM_011511734.1:c.1481T>A	XP_011510036.1:p.Leu494Gln
XM_011511735.1:c.1439T>A	XP_011510037.1:p.Leu480Gln
XM_011511736.1:c.1403T>A	XP_011510038.1:p.Leu468Gln
XM_011511744.1:c.*93T>A	XP_011510046.1:n.*93T>A
XM_011511750.1:c.*28T>A	XP_011510052.1:n.*28T>A
XM_011511754.1:c.920T>A	XP_011510056.1:p.Leu307Gln
XM_011511755.1:c.911T>A	XP_011510057.1:p.Leu304Gln
XM_011511756.1:c.908T>A	XP_011510058.1:p.Leu303Gln
XR_923004.1:n.1993T>A
XR_923007.1:n.1703T>A
XR_923011.1:n.1804T>A
NM_001352824.1:c.800T>A	NP_001339753.1:p.Leu267Gln
XM_011511734.2:c.1481T>A	XP_011510036.1:p.Leu494Gln
XM_011511735.2:c.1439T>A	XP_011510037.1:p.Leu480Gln
XM_011511736.2:c.1403T>A	XP_011510038.1:p.Leu468Gln
XM_011511744.2:c.*93T>A	XP_011510046.1:n.*93T>A
XM_011511750.3:c.*28T>A	XP_011510052.1:n.*28T>A
XM_011511756.2:c.908T>A	XP_011510058.1:p.Leu303Gln
XM_024453102.1:c.1253T>A	XP_024308870.1:p.Leu418Gln
XR_001738918.2:n.1735T>A
XR_001738919.2:n.1669T>A
XR_923004.3:n.1992T>A
XR_923007.3:n.1702T>A
XR_923011.3:n.1803T>A
NM_152783.5:c.1361T>A MANE Select	NP_689996.4:p.Leu454Gln
NM_001287249.2:c.959T>A	NP_001274178.1:p.Leu320Gln
NM_001352824.2:c.800T>A	NP_001339753.1:p.Leu267Gln
NR_109778.2:n.1232T>A