Canonical Allele Identifier: CA432079029

Gene: D2HGDH

Linked Data

• dbSNP Id: rs1172379477
• gnomAD v2: 2-242707168-C-T
• gnomAD v3: 2-241767753-C-T
• gnomAD v4: 2-241767753-C-T
• MyVariant Identifiers: chr2:g.242707168C>T (hg19) ; chr2:g.241767753C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767753C>T , CM000664.2:g.241767753C>T	GRCh38
NC_000002.11:g.242707168C>T , CM000664.1:g.242707168C>T	GRCh37
NC_000002.10:g.242355841C>T	NCBI36
NG_012012.1:g.38139C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1350C>T MANE Select	ENSP00000315351.4:p.Ser450=
ENST00000321264.8:c.1350C>T	ENSP00000315351.4:p.Ser450=
ENST00000400769.6:c.*100C>T	ENSP00000383580.2:n.*100C>T
ENST00000403782.5:c.948C>T	ENSP00000384723.1:p.Ser316=
ENST00000436747.5:c.*2586C>T	ENSP00000400212.1:n.*2586C>T
ENST00000445308.1:c.746C>T
ENST00000468064.5:n.1240C>T
ENST00000470343.5:n.831C>T
ENST00000473126.1:n.549C>T
ENST00000486953.5:n.1174C>T
ENST00000610344.1:c.*194C>T	ENSP00000481906.1:n.*194C>T
NM_001287249.1:c.948C>T	NP_001274178.1:p.Ser316=
NM_152783.4:c.1350C>T	NP_689996.4:p.Ser450=
NR_109778.1:n.1272C>T
XM_011511734.1:c.1470C>T	XP_011510036.1:p.Ser490=
XM_011511735.1:c.1428C>T	XP_011510037.1:p.Ser476=
XM_011511736.1:c.1392C>T	XP_011510038.1:p.Ser464=
XM_011511744.1:c.*82C>T	XP_011510046.1:n.*82C>T
XM_011511750.1:c.*17C>T	XP_011510052.1:n.*17C>T
XM_011511754.1:c.909C>T	XP_011510056.1:p.Ser303=
XM_011511755.1:c.900C>T	XP_011510057.1:p.Ser300=
XM_011511756.1:c.897C>T	XP_011510058.1:p.Ser299=
XR_923004.1:n.1982C>T
XR_923007.1:n.1692C>T
XR_923011.1:n.1793C>T
NM_001352824.1:c.789C>T	NP_001339753.1:p.Ser263=
XM_011511734.2:c.1470C>T	XP_011510036.1:p.Ser490=
XM_011511735.2:c.1428C>T	XP_011510037.1:p.Ser476=
XM_011511736.2:c.1392C>T	XP_011510038.1:p.Ser464=
XM_011511744.2:c.*82C>T	XP_011510046.1:n.*82C>T
XM_011511750.3:c.*17C>T	XP_011510052.1:n.*17C>T
XM_011511756.2:c.897C>T	XP_011510058.1:p.Ser299=
XM_024453102.1:c.1242C>T	XP_024308870.1:p.Ser414=
XR_001738918.2:n.1724C>T
XR_001738919.2:n.1658C>T
XR_923004.3:n.1981C>T
XR_923007.3:n.1691C>T
XR_923011.3:n.1792C>T
NM_152783.5:c.1350C>T MANE Select	NP_689996.4:p.Ser450=
NM_001287249.2:c.948C>T	NP_001274178.1:p.Ser316=
NM_001352824.2:c.789C>T	NP_001339753.1:p.Ser263=
NR_109778.2:n.1221C>T