Canonical Allele Identifier: CA432078900

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707132T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767717T>G , CM000664.2:g.241767717T>G	GRCh38
NC_000002.11:g.242707132T>G , CM000664.1:g.242707132T>G	GRCh37
NC_000002.10:g.242355805T>G	NCBI36
NG_012012.1:g.38103T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000321264.9:c.1314T>G MANE Select	ENSP00000315351.4:p.Gly438=
ENST00000321264.8:c.1314T>G	ENSP00000315351.4:p.Gly438=
ENST00000400769.6:c.*64T>G	ENSP00000383580.2:n.*64T>G
ENST00000403782.5:c.912T>G	ENSP00000384723.1:p.Gly304=
ENST00000436747.5:c.*2550T>G	ENSP00000400212.1:n.*2550T>G
ENST00000445308.1:c.710T>G
ENST00000468064.5:n.1204T>G
ENST00000470343.5:n.795T>G
ENST00000473126.1:n.513T>G
ENST00000486953.5:n.1138T>G
ENST00000610344.1:c.*158T>G	ENSP00000481906.1:n.*158T>G
NM_001287249.1:c.912T>G	NP_001274178.1:p.Gly304=
NM_152783.4:c.1314T>G	NP_689996.4:p.Gly438=
NR_109778.1:n.1236T>G
XM_011511734.1:c.1434T>G	XP_011510036.1:p.Gly478=
XM_011511735.1:c.1392T>G	XP_011510037.1:p.Gly464=
XM_011511736.1:c.1356T>G	XP_011510038.1:p.Gly452=
XM_011511744.1:c.*46T>G	XP_011510046.1:n.*46T>G
XM_011511750.1:c.1226T>G	XP_011510052.1:p.Val409Gly
XM_011511754.1:c.873T>G	XP_011510056.1:p.Gly291=
XM_011511755.1:c.864T>G	XP_011510057.1:p.Gly288=
XM_011511756.1:c.861T>G	XP_011510058.1:p.Gly287=
XR_923004.1:n.1946T>G
XR_923007.1:n.1656T>G
XR_923011.1:n.1757T>G
NM_001352824.1:c.753T>G	NP_001339753.1:p.Gly251=
XM_011511734.2:c.1434T>G	XP_011510036.1:p.Gly478=
XM_011511735.2:c.1392T>G	XP_011510037.1:p.Gly464=
XM_011511736.2:c.1356T>G	XP_011510038.1:p.Gly452=
XM_011511744.2:c.*46T>G	XP_011510046.1:n.*46T>G
XM_011511750.3:c.1226T>G	XP_011510052.1:p.Val409Gly
XM_011511756.2:c.861T>G	XP_011510058.1:p.Gly287=
XM_024453102.1:c.1206T>G	XP_024308870.1:p.Gly402=
XR_001738918.2:n.1688T>G
XR_001738919.2:n.1622T>G
XR_923004.3:n.1945T>G
XR_923007.3:n.1655T>G
XR_923011.3:n.1756T>G
NM_152783.5:c.1314T>G MANE Select	NP_689996.4:p.Gly438=
NM_001287249.2:c.912T>G	NP_001274178.1:p.Gly304=
NM_001352824.2:c.753T>G	NP_001339753.1:p.Gly251=
NR_109778.2:n.1185T>G