Canonical Allele Identifier: CA351413004

Gene: D2HGDH

Linked Data

• COSMIC: COSM3933594
• MyVariant Identifiers: chr2:g.242707154G>A (hg19) ; chr2:g.241767739G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767739G>A , CM000664.2:g.241767739G>A	GRCh38
NC_000002.11:g.242707154G>A , CM000664.1:g.242707154G>A	GRCh37
NC_000002.10:g.242355827G>A	NCBI36
NG_012012.1:g.38125G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1336G>A MANE Select	ENSP00000315351.4:p.Ala446Thr
ENST00000321264.8:c.1336G>A	ENSP00000315351.4:p.Ala446Thr
ENST00000400769.6:c.*86G>A	ENSP00000383580.2:n.*86G>A
ENST00000403782.5:c.934G>A	ENSP00000384723.1:p.Ala312Thr
ENST00000436747.5:c.*2572G>A	ENSP00000400212.1:n.*2572G>A
ENST00000445308.1:c.732G>A
ENST00000468064.5:n.1226G>A
ENST00000470343.5:n.817G>A
ENST00000473126.1:n.535G>A
ENST00000486953.5:n.1160G>A
ENST00000610344.1:c.*180G>A	ENSP00000481906.1:n.*180G>A
NM_001287249.1:c.934G>A	NP_001274178.1:p.Ala312Thr
NM_152783.4:c.1336G>A	NP_689996.4:p.Ala446Thr
NR_109778.1:n.1258G>A
XM_011511734.1:c.1456G>A	XP_011510036.1:p.Ala486Thr
XM_011511735.1:c.1414G>A	XP_011510037.1:p.Ala472Thr
XM_011511736.1:c.1378G>A	XP_011510038.1:p.Ala460Thr
XM_011511744.1:c.*68G>A	XP_011510046.1:n.*68G>A
XM_011511750.1:c.*3G>A	XP_011510052.1:n.*3G>A
XM_011511754.1:c.895G>A	XP_011510056.1:p.Ala299Thr
XM_011511755.1:c.886G>A	XP_011510057.1:p.Ala296Thr
XM_011511756.1:c.883G>A	XP_011510058.1:p.Ala295Thr
XR_923004.1:n.1968G>A
XR_923007.1:n.1678G>A
XR_923011.1:n.1779G>A
NM_001352824.1:c.775G>A	NP_001339753.1:p.Ala259Thr
XM_011511734.2:c.1456G>A	XP_011510036.1:p.Ala486Thr
XM_011511735.2:c.1414G>A	XP_011510037.1:p.Ala472Thr
XM_011511736.2:c.1378G>A	XP_011510038.1:p.Ala460Thr
XM_011511744.2:c.*68G>A	XP_011510046.1:n.*68G>A
XM_011511750.3:c.*3G>A	XP_011510052.1:n.*3G>A
XM_011511756.2:c.883G>A	XP_011510058.1:p.Ala295Thr
XM_024453102.1:c.1228G>A	XP_024308870.1:p.Ala410Thr
XR_001738918.2:n.1710G>A
XR_001738919.2:n.1644G>A
XR_923004.3:n.1967G>A
XR_923007.3:n.1677G>A
XR_923011.3:n.1778G>A
NM_152783.5:c.1336G>A MANE Select	NP_689996.4:p.Ala446Thr
NM_001287249.2:c.934G>A	NP_001274178.1:p.Ala312Thr
NM_001352824.2:c.775G>A	NP_001339753.1:p.Ala259Thr
NR_109778.2:n.1207G>A