Canonical Allele Identifier: CA432079315

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707274C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767859C>T , CM000664.2:g.241767859C>T	GRCh38
NC_000002.11:g.242707274C>T , CM000664.1:g.242707274C>T	GRCh37
NC_000002.10:g.242355947C>T	NCBI36
NG_012012.1:g.38245C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1456C>T MANE Select	ENSP00000315351.4:p.Leu486=
ENST00000321264.8:c.1456C>T	ENSP00000315351.4:p.Leu486=
ENST00000400769.6:c.*206C>T	ENSP00000383580.2:n.*206C>T
ENST00000403782.5:c.1054C>T	ENSP00000384723.1:p.Leu352=
ENST00000436747.5:c.*2692C>T	ENSP00000400212.1:n.*2692C>T
ENST00000445308.1:c.852C>T
ENST00000468064.5:n.1346C>T
ENST00000470343.5:n.937C>T
ENST00000473126.1:n.655C>T
ENST00000486953.5:n.1280C>T
ENST00000610344.1:c.*300C>T	ENSP00000481906.1:n.*300C>T
NM_001287249.1:c.1054C>T	NP_001274178.1:p.Leu352=
NM_152783.4:c.1456C>T	NP_689996.4:p.Leu486=
NR_109778.1:n.1378C>T
XM_011511734.1:c.1576C>T	XP_011510036.1:p.Leu526=
XM_011511735.1:c.1534C>T	XP_011510037.1:p.Leu512=
XM_011511736.1:c.1498C>T	XP_011510038.1:p.Leu500=
XM_011511754.1:c.1015C>T	XP_011510056.1:p.Leu339=
XM_011511755.1:c.1006C>T	XP_011510057.1:p.Leu336=
XM_011511756.1:c.1003C>T	XP_011510058.1:p.Leu335=
XR_923004.1:n.2088C>T
XR_923007.1:n.1798C>T
XR_923011.1:n.1899C>T
NM_001352824.1:c.895C>T	NP_001339753.1:p.Leu299=
XM_011511734.2:c.1576C>T	XP_011510036.1:p.Leu526=
XM_011511735.2:c.1534C>T	XP_011510037.1:p.Leu512=
XM_011511736.2:c.1498C>T	XP_011510038.1:p.Leu500=
XM_011511756.2:c.1003C>T	XP_011510058.1:p.Leu335=
XM_024453102.1:c.1348C>T	XP_024308870.1:p.Leu450=
XR_001738918.2:n.1830C>T
XR_001738919.2:n.1764C>T
XR_923004.3:n.2087C>T
XR_923007.3:n.1797C>T
XR_923011.3:n.1898C>T
NM_152783.5:c.1456C>T MANE Select	NP_689996.4:p.Leu486=
NM_001287249.2:c.1054C>T	NP_001274178.1:p.Leu352=
NM_001352824.2:c.895C>T	NP_001339753.1:p.Leu299=
NR_109778.2:n.1327C>T