Canonical Allele Identifier: CA351413153

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707223C>A (hg19) ; chr2:g.241767808C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767808C>A , CM000664.2:g.241767808C>A	GRCh38
NC_000002.11:g.242707223C>A , CM000664.1:g.242707223C>A	GRCh37
NC_000002.10:g.242355896C>A	NCBI36
NG_012012.1:g.38194C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1405C>A MANE Select	ENSP00000315351.4:p.Gln469Lys
ENST00000321264.8:c.1405C>A	ENSP00000315351.4:p.Gln469Lys
ENST00000400769.6:c.*155C>A	ENSP00000383580.2:n.*155C>A
ENST00000403782.5:c.1003C>A	ENSP00000384723.1:p.Gln335Lys
ENST00000436747.5:c.*2641C>A	ENSP00000400212.1:n.*2641C>A
ENST00000445308.1:c.801C>A
ENST00000468064.5:n.1295C>A
ENST00000470343.5:n.886C>A
ENST00000473126.1:n.604C>A
ENST00000486953.5:n.1229C>A
ENST00000610344.1:c.*249C>A	ENSP00000481906.1:n.*249C>A
NM_001287249.1:c.1003C>A	NP_001274178.1:p.Gln335Lys
NM_152783.4:c.1405C>A	NP_689996.4:p.Gln469Lys
NR_109778.1:n.1327C>A
XM_011511734.1:c.1525C>A	XP_011510036.1:p.Gln509Lys
XM_011511735.1:c.1483C>A	XP_011510037.1:p.Gln495Lys
XM_011511736.1:c.1447C>A	XP_011510038.1:p.Gln483Lys
XM_011511750.1:c.*72C>A	XP_011510052.1:n.*72C>A
XM_011511754.1:c.964C>A	XP_011510056.1:p.Gln322Lys
XM_011511755.1:c.955C>A	XP_011510057.1:p.Gln319Lys
XM_011511756.1:c.952C>A	XP_011510058.1:p.Gln318Lys
XR_923004.1:n.2037C>A
XR_923007.1:n.1747C>A
XR_923011.1:n.1848C>A
NM_001352824.1:c.844C>A	NP_001339753.1:p.Gln282Lys
XM_011511734.2:c.1525C>A	XP_011510036.1:p.Gln509Lys
XM_011511735.2:c.1483C>A	XP_011510037.1:p.Gln495Lys
XM_011511736.2:c.1447C>A	XP_011510038.1:p.Gln483Lys
XM_011511750.3:c.*72C>A	XP_011510052.1:n.*72C>A
XM_011511756.2:c.952C>A	XP_011510058.1:p.Gln318Lys
XM_024453102.1:c.1297C>A	XP_024308870.1:p.Gln433Lys
XR_001738918.2:n.1779C>A
XR_001738919.2:n.1713C>A
XR_923004.3:n.2036C>A
XR_923007.3:n.1746C>A
XR_923011.3:n.1847C>A
NM_152783.5:c.1405C>A MANE Select	NP_689996.4:p.Gln469Lys
NM_001287249.2:c.1003C>A	NP_001274178.1:p.Gln335Lys
NM_001352824.2:c.844C>A	NP_001339753.1:p.Gln282Lys
NR_109778.2:n.1276C>A