Canonical Allele Identifier: CA432079062

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707180G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767765G>T , CM000664.2:g.241767765G>T	GRCh38
NC_000002.11:g.242707180G>T , CM000664.1:g.242707180G>T	GRCh37
NC_000002.10:g.242355853G>T	NCBI36
NG_012012.1:g.38151G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1362G>T MANE Select	ENSP00000315351.4:p.Leu454=
ENST00000321264.8:c.1362G>T	ENSP00000315351.4:p.Leu454=
ENST00000400769.6:c.*112G>T	ENSP00000383580.2:n.*112G>T
ENST00000403782.5:c.960G>T	ENSP00000384723.1:p.Leu320=
ENST00000436747.5:c.*2598G>T	ENSP00000400212.1:n.*2598G>T
ENST00000445308.1:c.758G>T
ENST00000468064.5:n.1252G>T
ENST00000470343.5:n.843G>T
ENST00000473126.1:n.561G>T
ENST00000486953.5:n.1186G>T
ENST00000610344.1:c.*206G>T	ENSP00000481906.1:n.*206G>T
NM_001287249.1:c.960G>T	NP_001274178.1:p.Leu320=
NM_152783.4:c.1362G>T	NP_689996.4:p.Leu454=
NR_109778.1:n.1284G>T
XM_011511734.1:c.1482G>T	XP_011510036.1:p.Leu494=
XM_011511735.1:c.1440G>T	XP_011510037.1:p.Leu480=
XM_011511736.1:c.1404G>T	XP_011510038.1:p.Leu468=
XM_011511744.1:c.*94G>T	XP_011510046.1:n.*94G>T
XM_011511750.1:c.*29G>T	XP_011510052.1:n.*29G>T
XM_011511754.1:c.921G>T	XP_011510056.1:p.Leu307=
XM_011511755.1:c.912G>T	XP_011510057.1:p.Leu304=
XM_011511756.1:c.909G>T	XP_011510058.1:p.Leu303=
XR_923004.1:n.1994G>T
XR_923007.1:n.1704G>T
XR_923011.1:n.1805G>T
NM_001352824.1:c.801G>T	NP_001339753.1:p.Leu267=
XM_011511734.2:c.1482G>T	XP_011510036.1:p.Leu494=
XM_011511735.2:c.1440G>T	XP_011510037.1:p.Leu480=
XM_011511736.2:c.1404G>T	XP_011510038.1:p.Leu468=
XM_011511744.2:c.*94G>T	XP_011510046.1:n.*94G>T
XM_011511750.3:c.*29G>T	XP_011510052.1:n.*29G>T
XM_011511756.2:c.909G>T	XP_011510058.1:p.Leu303=
XM_024453102.1:c.1254G>T	XP_024308870.1:p.Leu418=
XR_001738918.2:n.1736G>T
XR_001738919.2:n.1670G>T
XR_923004.3:n.1993G>T
XR_923007.3:n.1703G>T
XR_923011.3:n.1804G>T
NM_152783.5:c.1362G>T MANE Select	NP_689996.4:p.Leu454=
NM_001287249.2:c.960G>T	NP_001274178.1:p.Leu320=
NM_001352824.2:c.801G>T	NP_001339753.1:p.Leu267=
NR_109778.2:n.1233G>T