Canonical Allele Identifier: CA351413138

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707214G>C (hg19) ; chr2:g.241767799G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1396G>C MANE Select	ENSP00000315351.4:p.Ala466Pro
ENST00000321264.8:c.1396G>C	ENSP00000315351.4:p.Ala466Pro
ENST00000400769.6:c.*146G>C	ENSP00000383580.2:n.*146G>C
ENST00000403782.5:c.994G>C	ENSP00000384723.1:p.Ala332Pro
ENST00000436747.5:c.*2632G>C	ENSP00000400212.1:n.*2632G>C
ENST00000445308.1:c.792G>C
ENST00000468064.5:n.1286G>C
ENST00000470343.5:n.877G>C
ENST00000473126.1:n.595G>C
ENST00000486953.5:n.1220G>C
ENST00000610344.1:c.*240G>C	ENSP00000481906.1:n.*240G>C
NM_001287249.1:c.994G>C	NP_001274178.1:p.Ala332Pro
NM_152783.4:c.1396G>C	NP_689996.4:p.Ala466Pro
NR_109778.1:n.1318G>C
XM_011511734.1:c.1516G>C	XP_011510036.1:p.Ala506Pro
XM_011511735.1:c.1474G>C	XP_011510037.1:p.Ala492Pro
XM_011511736.1:c.1438G>C	XP_011510038.1:p.Ala480Pro
XM_011511750.1:c.*63G>C	XP_011510052.1:n.*63G>C
XM_011511754.1:c.955G>C	XP_011510056.1:p.Ala319Pro
XM_011511755.1:c.946G>C	XP_011510057.1:p.Ala316Pro
XM_011511756.1:c.943G>C	XP_011510058.1:p.Ala315Pro
XR_923004.1:n.2028G>C
XR_923007.1:n.1738G>C
XR_923011.1:n.1839G>C
NM_001352824.1:c.835G>C	NP_001339753.1:p.Ala279Pro
XM_011511734.2:c.1516G>C	XP_011510036.1:p.Ala506Pro
XM_011511735.2:c.1474G>C	XP_011510037.1:p.Ala492Pro
XM_011511736.2:c.1438G>C	XP_011510038.1:p.Ala480Pro
XM_011511750.3:c.*63G>C	XP_011510052.1:n.*63G>C
XM_011511756.2:c.943G>C	XP_011510058.1:p.Ala315Pro
XM_024453102.1:c.1288G>C	XP_024308870.1:p.Ala430Pro
XR_001738918.2:n.1770G>C
XR_001738919.2:n.1704G>C
XR_923004.3:n.2027G>C
XR_923007.3:n.1737G>C
XR_923011.3:n.1838G>C
NM_152783.5:c.1396G>C MANE Select	NP_689996.4:p.Ala466Pro
NM_001287249.2:c.994G>C	NP_001274178.1:p.Ala332Pro
NM_001352824.2:c.835G>C	NP_001339753.1:p.Ala279Pro
NR_109778.2:n.1267G>C