Canonical Allele Identifier: CA2222205

Gene: D2HGDH

Linked Data

• ClinVar Variation Id: 1494698
• ClinVar RCV Id: RCV002015073
• dbSNP Id: rs149519095
• ExAC: 2:242707146 A / G
• gnomAD v2: 2-242707146-A-G
• gnomAD v3: 2-241767731-A-G
• gnomAD v4: 2-241767731-A-G
• COSMIC: COSM3972161
• MyVariant Identifiers: chr2:g.242707146A>G (hg19) ; chr2:g.241767731A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767731A>G , CM000664.2:g.241767731A>G	GRCh38
NC_000002.11:g.242707146A>G , CM000664.1:g.242707146A>G	GRCh37
NC_000002.10:g.242355819A>G	NCBI36
NG_012012.1:g.38117A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1328A>G MANE Select	ENSP00000315351.4:p.Asn443Ser
ENST00000321264.8:c.1328A>G	ENSP00000315351.4:p.Asn443Ser
ENST00000400769.6:c.*78A>G	ENSP00000383580.2:n.*78A>G
ENST00000403782.5:c.926A>G	ENSP00000384723.1:p.Asn309Ser
ENST00000436747.5:c.*2564A>G	ENSP00000400212.1:n.*2564A>G
ENST00000445308.1:c.724A>G
ENST00000468064.5:n.1218A>G
ENST00000470343.5:n.809A>G
ENST00000473126.1:n.527A>G
ENST00000486953.5:n.1152A>G
ENST00000610344.1:c.*172A>G	ENSP00000481906.1:n.*172A>G
NM_001287249.1:c.926A>G	NP_001274178.1:p.Asn309Ser
NM_152783.4:c.1328A>G	NP_689996.4:p.Asn443Ser
NR_109778.1:n.1250A>G
XM_011511734.1:c.1448A>G	XP_011510036.1:p.Asn483Ser
XM_011511735.1:c.1406A>G	XP_011510037.1:p.Asn469Ser
XM_011511736.1:c.1370A>G	XP_011510038.1:p.Asn457Ser
XM_011511744.1:c.*60A>G	XP_011510046.1:n.*60A>G
XM_011511750.1:c.1240A>G	XP_011510052.1:p.Met414Val
XM_011511754.1:c.887A>G	XP_011510056.1:p.Asn296Ser
XM_011511755.1:c.878A>G	XP_011510057.1:p.Asn293Ser
XM_011511756.1:c.875A>G	XP_011510058.1:p.Asn292Ser
XR_923004.1:n.1960A>G
XR_923007.1:n.1670A>G
XR_923011.1:n.1771A>G
NM_001352824.1:c.767A>G	NP_001339753.1:p.Asn256Ser
XM_011511734.2:c.1448A>G	XP_011510036.1:p.Asn483Ser
XM_011511735.2:c.1406A>G	XP_011510037.1:p.Asn469Ser
XM_011511736.2:c.1370A>G	XP_011510038.1:p.Asn457Ser
XM_011511744.2:c.*60A>G	XP_011510046.1:n.*60A>G
XM_011511750.3:c.1240A>G	XP_011510052.1:p.Met414Val
XM_011511756.2:c.875A>G	XP_011510058.1:p.Asn292Ser
XM_024453102.1:c.1220A>G	XP_024308870.1:p.Asn407Ser
XR_001738918.2:n.1702A>G
XR_001738919.2:n.1636A>G
XR_923004.3:n.1959A>G
XR_923007.3:n.1669A>G
XR_923011.3:n.1770A>G
NM_152783.5:c.1328A>G MANE Select	NP_689996.4:p.Asn443Ser
NM_001287249.2:c.926A>G	NP_001274178.1:p.Asn309Ser
NM_001352824.2:c.767A>G	NP_001339753.1:p.Asn256Ser
NR_109778.2:n.1199A>G