Canonical Allele Identifier: CA351412994

Gene: D2HGDH

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1333A>G MANE Select	ENSP00000315351.4:p.Thr445Ala
ENST00000321264.8:c.1333A>G	ENSP00000315351.4:p.Thr445Ala
ENST00000400769.6:c.*83A>G	ENSP00000383580.2:n.*83A>G
ENST00000403782.5:c.931A>G	ENSP00000384723.1:p.Thr311Ala
ENST00000436747.5:c.*2569A>G	ENSP00000400212.1:n.*2569A>G
ENST00000445308.1:c.729A>G
ENST00000468064.5:n.1223A>G
ENST00000470343.5:n.814A>G
ENST00000473126.1:n.532A>G
ENST00000486953.5:n.1157A>G
ENST00000610344.1:c.*177A>G	ENSP00000481906.1:n.*177A>G
NM_001287249.1:c.931A>G	NP_001274178.1:p.Thr311Ala
NM_152783.4:c.1333A>G	NP_689996.4:p.Thr445Ala
NR_109778.1:n.1255A>G
XM_011511734.1:c.1453A>G	XP_011510036.1:p.Thr485Ala
XM_011511735.1:c.1411A>G	XP_011510037.1:p.Thr471Ala
XM_011511736.1:c.1375A>G	XP_011510038.1:p.Thr459Ala
XM_011511744.1:c.*65A>G	XP_011510046.1:n.*65A>G
XM_011511750.1:c.1245A>G	XP_011510052.1:p.Ter415Trp
XM_011511754.1:c.892A>G	XP_011510056.1:p.Thr298Ala
XM_011511755.1:c.883A>G	XP_011510057.1:p.Thr295Ala
XM_011511756.1:c.880A>G	XP_011510058.1:p.Thr294Ala
XR_923004.1:n.1965A>G
XR_923007.1:n.1675A>G
XR_923011.1:n.1776A>G
NM_001352824.1:c.772A>G	NP_001339753.1:p.Thr258Ala
XM_011511734.2:c.1453A>G	XP_011510036.1:p.Thr485Ala
XM_011511735.2:c.1411A>G	XP_011510037.1:p.Thr471Ala
XM_011511736.2:c.1375A>G	XP_011510038.1:p.Thr459Ala
XM_011511744.2:c.*65A>G	XP_011510046.1:n.*65A>G
XM_011511750.3:c.1245A>G	XP_011510052.1:p.Ter415Trp
XM_011511756.2:c.880A>G	XP_011510058.1:p.Thr294Ala
XM_024453102.1:c.1225A>G	XP_024308870.1:p.Thr409Ala
XR_001738918.2:n.1707A>G
XR_001738919.2:n.1641A>G
XR_923004.3:n.1964A>G
XR_923007.3:n.1674A>G
XR_923011.3:n.1775A>G
NM_152783.5:c.1333A>G MANE Select	NP_689996.4:p.Thr445Ala
NM_001287249.2:c.931A>G	NP_001274178.1:p.Thr311Ala
NM_001352824.2:c.772A>G	NP_001339753.1:p.Thr258Ala
NR_109778.2:n.1204A>G