Canonical Allele Identifier: CA351413139

Gene: D2HGDH

Linked Data

• dbSNP Id: rs1212312435
• gnomAD v2: 2-242707214-G-T
• gnomAD v3: 2-241767799-G-T
• gnomAD v4: 2-241767799-G-T
• MyVariant Identifiers: chr2:g.242707214G>T (hg19) ; chr2:g.241767799G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767799G>T , CM000664.2:g.241767799G>T	GRCh38
NC_000002.11:g.242707214G>T , CM000664.1:g.242707214G>T	GRCh37
NC_000002.10:g.242355887G>T	NCBI36
NG_012012.1:g.38185G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1396G>T MANE Select	ENSP00000315351.4:p.Ala466Ser
ENST00000321264.8:c.1396G>T	ENSP00000315351.4:p.Ala466Ser
ENST00000400769.6:c.*146G>T	ENSP00000383580.2:n.*146G>T
ENST00000403782.5:c.994G>T	ENSP00000384723.1:p.Ala332Ser
ENST00000436747.5:c.*2632G>T	ENSP00000400212.1:n.*2632G>T
ENST00000445308.1:c.792G>T
ENST00000468064.5:n.1286G>T
ENST00000470343.5:n.877G>T
ENST00000473126.1:n.595G>T
ENST00000486953.5:n.1220G>T
ENST00000610344.1:c.*240G>T	ENSP00000481906.1:n.*240G>T
NM_001287249.1:c.994G>T	NP_001274178.1:p.Ala332Ser
NM_152783.4:c.1396G>T	NP_689996.4:p.Ala466Ser
NR_109778.1:n.1318G>T
XM_011511734.1:c.1516G>T	XP_011510036.1:p.Ala506Ser
XM_011511735.1:c.1474G>T	XP_011510037.1:p.Ala492Ser
XM_011511736.1:c.1438G>T	XP_011510038.1:p.Ala480Ser
XM_011511750.1:c.*63G>T	XP_011510052.1:n.*63G>T
XM_011511754.1:c.955G>T	XP_011510056.1:p.Ala319Ser
XM_011511755.1:c.946G>T	XP_011510057.1:p.Ala316Ser
XM_011511756.1:c.943G>T	XP_011510058.1:p.Ala315Ser
XR_923004.1:n.2028G>T
XR_923007.1:n.1738G>T
XR_923011.1:n.1839G>T
NM_001352824.1:c.835G>T	NP_001339753.1:p.Ala279Ser
XM_011511734.2:c.1516G>T	XP_011510036.1:p.Ala506Ser
XM_011511735.2:c.1474G>T	XP_011510037.1:p.Ala492Ser
XM_011511736.2:c.1438G>T	XP_011510038.1:p.Ala480Ser
XM_011511750.3:c.*63G>T	XP_011510052.1:n.*63G>T
XM_011511756.2:c.943G>T	XP_011510058.1:p.Ala315Ser
XM_024453102.1:c.1288G>T	XP_024308870.1:p.Ala430Ser
XR_001738918.2:n.1770G>T
XR_001738919.2:n.1704G>T
XR_923004.3:n.2027G>T
XR_923007.3:n.1737G>T
XR_923011.3:n.1838G>T
NM_152783.5:c.1396G>T MANE Select	NP_689996.4:p.Ala466Ser
NM_001287249.2:c.994G>T	NP_001274178.1:p.Ala332Ser
NM_001352824.2:c.835G>T	NP_001339753.1:p.Ala279Ser
NR_109778.2:n.1267G>T