Canonical Allele Identifier: CA68571642

Gene: D2HGDH

Linked Data

• ClinVar Variation Id: 2549743
• ClinVar RCV Id: RCV003273292
• dbSNP Id: rs958941769
• gnomAD v2: 2-242707292-C-G
• gnomAD v4: 2-241767877-C-G
• MyVariant Identifiers: chr2:g.242707292C>G (hg19) ; chr2:g.241767877C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767877C>G , CM000664.2:g.241767877C>G	GRCh38
NC_000002.11:g.242707292C>G , CM000664.1:g.242707292C>G	GRCh37
NC_000002.10:g.242355965C>G	NCBI36
NG_012012.1:g.38263C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1474C>G MANE Select	ENSP00000315351.4:p.Pro492Ala
ENST00000321264.8:c.1474C>G	ENSP00000315351.4:p.Pro492Ala
ENST00000400769.6:c.*224C>G	ENSP00000383580.2:n.*224C>G
ENST00000403782.5:c.1072C>G	ENSP00000384723.1:p.Pro358Ala
ENST00000436747.5:c.*2710C>G	ENSP00000400212.1:n.*2710C>G
ENST00000445308.1:c.870C>G
ENST00000468064.5:n.1364C>G
ENST00000470343.5:n.955C>G
ENST00000473126.1:n.673C>G
ENST00000486953.5:n.1298C>G
ENST00000610344.1:c.*318C>G	ENSP00000481906.1:n.*318C>G
NM_001287249.1:c.1072C>G	NP_001274178.1:p.Pro358Ala
NM_152783.4:c.1474C>G	NP_689996.4:p.Pro492Ala
NR_109778.1:n.1396C>G
XM_011511734.1:c.1594C>G	XP_011510036.1:p.Pro532Ala
XM_011511735.1:c.1552C>G	XP_011510037.1:p.Pro518Ala
XM_011511736.1:c.1516C>G	XP_011510038.1:p.Pro506Ala
XM_011511754.1:c.1033C>G	XP_011510056.1:p.Pro345Ala
XM_011511755.1:c.1024C>G	XP_011510057.1:p.Pro342Ala
XM_011511756.1:c.1021C>G	XP_011510058.1:p.Pro341Ala
XR_923004.1:n.2106C>G
XR_923007.1:n.1816C>G
XR_923011.1:n.1917C>G
NM_001352824.1:c.913C>G	NP_001339753.1:p.Pro305Ala
XM_011511734.2:c.1594C>G	XP_011510036.1:p.Pro532Ala
XM_011511735.2:c.1552C>G	XP_011510037.1:p.Pro518Ala
XM_011511736.2:c.1516C>G	XP_011510038.1:p.Pro506Ala
XM_011511756.2:c.1021C>G	XP_011510058.1:p.Pro341Ala
XM_024453102.1:c.1366C>G	XP_024308870.1:p.Pro456Ala
XR_001738918.2:n.1848C>G
XR_001738919.2:n.1782C>G
XR_923004.3:n.2105C>G
XR_923007.3:n.1815C>G
XR_923011.3:n.1916C>G
NM_152783.5:c.1474C>G MANE Select	NP_689996.4:p.Pro492Ala
NM_001287249.2:c.1072C>G	NP_001274178.1:p.Pro358Ala
NM_001352824.2:c.913C>G	NP_001339753.1:p.Pro305Ala
NR_109778.2:n.1345C>G