Canonical Allele Identifier: CA432079324

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707282C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767867C>T , CM000664.2:g.241767867C>T	GRCh38
NC_000002.11:g.242707282C>T , CM000664.1:g.242707282C>T	GRCh37
NC_000002.10:g.242355955C>T	NCBI36
NG_012012.1:g.38253C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1464C>T MANE Select	ENSP00000315351.4:p.Tyr488=
ENST00000321264.8:c.1464C>T	ENSP00000315351.4:p.Tyr488=
ENST00000400769.6:c.*214C>T	ENSP00000383580.2:n.*214C>T
ENST00000403782.5:c.1062C>T	ENSP00000384723.1:p.Tyr354=
ENST00000436747.5:c.*2700C>T	ENSP00000400212.1:n.*2700C>T
ENST00000445308.1:c.860C>T
ENST00000468064.5:n.1354C>T
ENST00000470343.5:n.945C>T
ENST00000473126.1:n.663C>T
ENST00000486953.5:n.1288C>T
ENST00000610344.1:c.*308C>T	ENSP00000481906.1:n.*308C>T
NM_001287249.1:c.1062C>T	NP_001274178.1:p.Tyr354=
NM_152783.4:c.1464C>T	NP_689996.4:p.Tyr488=
NR_109778.1:n.1386C>T
XM_011511734.1:c.1584C>T	XP_011510036.1:p.Tyr528=
XM_011511735.1:c.1542C>T	XP_011510037.1:p.Tyr514=
XM_011511736.1:c.1506C>T	XP_011510038.1:p.Tyr502=
XM_011511754.1:c.1023C>T	XP_011510056.1:p.Tyr341=
XM_011511755.1:c.1014C>T	XP_011510057.1:p.Tyr338=
XM_011511756.1:c.1011C>T	XP_011510058.1:p.Tyr337=
XR_923004.1:n.2096C>T
XR_923007.1:n.1806C>T
XR_923011.1:n.1907C>T
NM_001352824.1:c.903C>T	NP_001339753.1:p.Tyr301=
XM_011511734.2:c.1584C>T	XP_011510036.1:p.Tyr528=
XM_011511735.2:c.1542C>T	XP_011510037.1:p.Tyr514=
XM_011511736.2:c.1506C>T	XP_011510038.1:p.Tyr502=
XM_011511756.2:c.1011C>T	XP_011510058.1:p.Tyr337=
XM_024453102.1:c.1356C>T	XP_024308870.1:p.Tyr452=
XR_001738918.2:n.1838C>T
XR_001738919.2:n.1772C>T
XR_923004.3:n.2095C>T
XR_923007.3:n.1805C>T
XR_923011.3:n.1906C>T
NM_152783.5:c.1464C>T MANE Select	NP_689996.4:p.Tyr488=
NM_001287249.2:c.1062C>T	NP_001274178.1:p.Tyr354=
NM_001352824.2:c.903C>T	NP_001339753.1:p.Tyr301=
NR_109778.2:n.1335C>T