Canonical Allele Identifier: CA351413008

Gene: D2HGDH

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1336G>T MANE Select	ENSP00000315351.4:p.Ala446Ser
ENST00000321264.8:c.1336G>T	ENSP00000315351.4:p.Ala446Ser
ENST00000400769.6:c.*86G>T	ENSP00000383580.2:n.*86G>T
ENST00000403782.5:c.934G>T	ENSP00000384723.1:p.Ala312Ser
ENST00000436747.5:c.*2572G>T	ENSP00000400212.1:n.*2572G>T
ENST00000445308.1:c.732G>T
ENST00000468064.5:n.1226G>T
ENST00000470343.5:n.817G>T
ENST00000473126.1:n.535G>T
ENST00000486953.5:n.1160G>T
ENST00000610344.1:c.*180G>T	ENSP00000481906.1:n.*180G>T
NM_001287249.1:c.934G>T	NP_001274178.1:p.Ala312Ser
NM_152783.4:c.1336G>T	NP_689996.4:p.Ala446Ser
NR_109778.1:n.1258G>T
XM_011511734.1:c.1456G>T	XP_011510036.1:p.Ala486Ser
XM_011511735.1:c.1414G>T	XP_011510037.1:p.Ala472Ser
XM_011511736.1:c.1378G>T	XP_011510038.1:p.Ala460Ser
XM_011511744.1:c.*68G>T	XP_011510046.1:n.*68G>T
XM_011511750.1:c.*3G>T	XP_011510052.1:n.*3G>T
XM_011511754.1:c.895G>T	XP_011510056.1:p.Ala299Ser
XM_011511755.1:c.886G>T	XP_011510057.1:p.Ala296Ser
XM_011511756.1:c.883G>T	XP_011510058.1:p.Ala295Ser
XR_923004.1:n.1968G>T
XR_923007.1:n.1678G>T
XR_923011.1:n.1779G>T
NM_001352824.1:c.775G>T	NP_001339753.1:p.Ala259Ser
XM_011511734.2:c.1456G>T	XP_011510036.1:p.Ala486Ser
XM_011511735.2:c.1414G>T	XP_011510037.1:p.Ala472Ser
XM_011511736.2:c.1378G>T	XP_011510038.1:p.Ala460Ser
XM_011511744.2:c.*68G>T	XP_011510046.1:n.*68G>T
XM_011511750.3:c.*3G>T	XP_011510052.1:n.*3G>T
XM_011511756.2:c.883G>T	XP_011510058.1:p.Ala295Ser
XM_024453102.1:c.1228G>T	XP_024308870.1:p.Ala410Ser
XR_001738918.2:n.1710G>T
XR_001738919.2:n.1644G>T
XR_923004.3:n.1967G>T
XR_923007.3:n.1677G>T
XR_923011.3:n.1778G>T
NM_152783.5:c.1336G>T MANE Select	NP_689996.4:p.Ala446Ser
NM_001287249.2:c.934G>T	NP_001274178.1:p.Ala312Ser
NM_001352824.2:c.775G>T	NP_001339753.1:p.Ala259Ser
NR_109778.2:n.1207G>T