Canonical Allele Identifier: CA351413064

Gene: D2HGDH

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1361T>C MANE Select	ENSP00000315351.4:p.Leu454Pro
ENST00000321264.8:c.1361T>C	ENSP00000315351.4:p.Leu454Pro
ENST00000400769.6:c.*111T>C	ENSP00000383580.2:n.*111T>C
ENST00000403782.5:c.959T>C	ENSP00000384723.1:p.Leu320Pro
ENST00000436747.5:c.*2597T>C	ENSP00000400212.1:n.*2597T>C
ENST00000445308.1:c.757T>C
ENST00000468064.5:n.1251T>C
ENST00000470343.5:n.842T>C
ENST00000473126.1:n.560T>C
ENST00000486953.5:n.1185T>C
ENST00000610344.1:c.*205T>C	ENSP00000481906.1:n.*205T>C
NM_001287249.1:c.959T>C	NP_001274178.1:p.Leu320Pro
NM_152783.4:c.1361T>C	NP_689996.4:p.Leu454Pro
NR_109778.1:n.1283T>C
XM_011511734.1:c.1481T>C	XP_011510036.1:p.Leu494Pro
XM_011511735.1:c.1439T>C	XP_011510037.1:p.Leu480Pro
XM_011511736.1:c.1403T>C	XP_011510038.1:p.Leu468Pro
XM_011511744.1:c.*93T>C	XP_011510046.1:n.*93T>C
XM_011511750.1:c.*28T>C	XP_011510052.1:n.*28T>C
XM_011511754.1:c.920T>C	XP_011510056.1:p.Leu307Pro
XM_011511755.1:c.911T>C	XP_011510057.1:p.Leu304Pro
XM_011511756.1:c.908T>C	XP_011510058.1:p.Leu303Pro
XR_923004.1:n.1993T>C
XR_923007.1:n.1703T>C
XR_923011.1:n.1804T>C
NM_001352824.1:c.800T>C	NP_001339753.1:p.Leu267Pro
XM_011511734.2:c.1481T>C	XP_011510036.1:p.Leu494Pro
XM_011511735.2:c.1439T>C	XP_011510037.1:p.Leu480Pro
XM_011511736.2:c.1403T>C	XP_011510038.1:p.Leu468Pro
XM_011511744.2:c.*93T>C	XP_011510046.1:n.*93T>C
XM_011511750.3:c.*28T>C	XP_011510052.1:n.*28T>C
XM_011511756.2:c.908T>C	XP_011510058.1:p.Leu303Pro
XM_024453102.1:c.1253T>C	XP_024308870.1:p.Leu418Pro
XR_001738918.2:n.1735T>C
XR_001738919.2:n.1669T>C
XR_923004.3:n.1992T>C
XR_923007.3:n.1702T>C
XR_923011.3:n.1803T>C
NM_152783.5:c.1361T>C MANE Select	NP_689996.4:p.Leu454Pro
NM_001287249.2:c.959T>C	NP_001274178.1:p.Leu320Pro
NM_001352824.2:c.800T>C	NP_001339753.1:p.Leu267Pro
NR_109778.2:n.1232T>C