Canonical Allele Identifier: CA351412992

Gene: D2HGDH

Linked Data

• COSMIC: COSM359653
• MyVariant Identifiers: chr2:g.242707151A>T (hg19) ; chr2:g.241767736A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767736A>T , CM000664.2:g.241767736A>T	GRCh38
NC_000002.11:g.242707151A>T , CM000664.1:g.242707151A>T	GRCh37
NC_000002.10:g.242355824A>T	NCBI36
NG_012012.1:g.38122A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1333A>T MANE Select	ENSP00000315351.4:p.Thr445Ser
ENST00000321264.8:c.1333A>T	ENSP00000315351.4:p.Thr445Ser
ENST00000400769.6:c.*83A>T	ENSP00000383580.2:n.*83A>T
ENST00000403782.5:c.931A>T	ENSP00000384723.1:p.Thr311Ser
ENST00000436747.5:c.*2569A>T	ENSP00000400212.1:n.*2569A>T
ENST00000445308.1:c.729A>T
ENST00000468064.5:n.1223A>T
ENST00000470343.5:n.814A>T
ENST00000473126.1:n.532A>T
ENST00000486953.5:n.1157A>T
ENST00000610344.1:c.*177A>T	ENSP00000481906.1:n.*177A>T
NM_001287249.1:c.931A>T	NP_001274178.1:p.Thr311Ser
NM_152783.4:c.1333A>T	NP_689996.4:p.Thr445Ser
NR_109778.1:n.1255A>T
XM_011511734.1:c.1453A>T	XP_011510036.1:p.Thr485Ser
XM_011511735.1:c.1411A>T	XP_011510037.1:p.Thr471Ser
XM_011511736.1:c.1375A>T	XP_011510038.1:p.Thr459Ser
XM_011511744.1:c.*65A>T	XP_011510046.1:n.*65A>T
XM_011511750.1:c.1245A>T	XP_011510052.1:p.Ter415Cys
XM_011511754.1:c.892A>T	XP_011510056.1:p.Thr298Ser
XM_011511755.1:c.883A>T	XP_011510057.1:p.Thr295Ser
XM_011511756.1:c.880A>T	XP_011510058.1:p.Thr294Ser
XR_923004.1:n.1965A>T
XR_923007.1:n.1675A>T
XR_923011.1:n.1776A>T
NM_001352824.1:c.772A>T	NP_001339753.1:p.Thr258Ser
XM_011511734.2:c.1453A>T	XP_011510036.1:p.Thr485Ser
XM_011511735.2:c.1411A>T	XP_011510037.1:p.Thr471Ser
XM_011511736.2:c.1375A>T	XP_011510038.1:p.Thr459Ser
XM_011511744.2:c.*65A>T	XP_011510046.1:n.*65A>T
XM_011511750.3:c.1245A>T	XP_011510052.1:p.Ter415Cys
XM_011511756.2:c.880A>T	XP_011510058.1:p.Thr294Ser
XM_024453102.1:c.1225A>T	XP_024308870.1:p.Thr409Ser
XR_001738918.2:n.1707A>T
XR_001738919.2:n.1641A>T
XR_923004.3:n.1964A>T
XR_923007.3:n.1674A>T
XR_923011.3:n.1775A>T
NM_152783.5:c.1333A>T MANE Select	NP_689996.4:p.Thr445Ser
NM_001287249.2:c.931A>T	NP_001274178.1:p.Thr311Ser
NM_001352824.2:c.772A>T	NP_001339753.1:p.Thr258Ser
NR_109778.2:n.1204A>T