Canonical Allele Identifier: CA349704339

Gene: AGPS

Linked Data

• MyVariant Identifiers: chr2:g.178326651G>A (hg19) ; chr2:g.177461923G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.177461923G>A , CM000664.2:g.177461923G>A	GRCh38
NC_000002.11:g.178326651G>A , CM000664.1:g.178326651G>A	GRCh37
NC_000002.10:g.178034897G>A	NCBI36
NG_008968.1:g.74181G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264167.11:c.901G>A MANE Select	ENSP00000264167.4:p.Glu301Lys
ENST00000460342.2:n.2313G>A
ENST00000637633.2:c.901G>A	ENSP00000490844.2:p.Glu301Lys
ENST00000642466.2:c.901G>A	ENSP00000494433.2:p.Glu301Lys
ENST00000679421.1:n.2130G>A
ENST00000679459.1:c.901G>A	ENSP00000506137.1:p.Glu301Lys
ENST00000679478.1:c.631G>A	ENSP00000506484.1:p.Glu211Lys
ENST00000679639.1:n.704G>A
ENST00000679994.1:c.631G>A	ENSP00000504957.1:p.Glu211Lys
ENST00000680028.1:n.2265G>A
ENST00000680155.1:c.631G>A	ENSP00000505333.1:p.Glu211Lys
ENST00000680705.1:n.945G>A
ENST00000680770.1:c.901G>A	ENSP00000505536.1:p.Glu301Lys
ENST00000680893.1:c.*149G>A	ENSP00000505929.1:n.*149G>A
ENST00000680910.1:n.931G>A
ENST00000681028.1:c.631G>A	ENSP00000506323.1:p.Glu211Lys
ENST00000681032.1:c.*279G>A	ENSP00000505205.1:n.*279G>A
ENST00000681449.1:c.631G>A	ENSP00000505342.1:p.Glu211Lys
ENST00000681565.1:c.901G>A	ENSP00000505620.1:p.Glu301Lys
ENST00000681752.1:c.*671G>A	ENSP00000504994.1:n.*671G>A
ENST00000681891.1:n.4645G>A
ENST00000264167.8:c.901G>A	ENSP00000264167.4:p.Glu301Lys
ENST00000409888.1:c.350+41565G>A	ENSP00000386688.1:n.350+41565G>A
NM_003659.3:c.901G>A	NP_003650.1:p.Glu301Lys
XM_011512041.1:c.631G>A	XP_011510343.1:p.Glu211Lys
XM_011512042.1:c.631G>A	XP_011510344.1:p.Glu211Lys
XM_011512043.1:c.166G>A	XP_011510345.1:p.Glu56Lys
XM_011512044.1:c.901G>A	XP_011510346.1:p.Glu301Lys
XM_011512045.1:c.901G>A	XP_011510347.1:p.Glu301Lys
XM_011512041.2:c.631G>A	XP_011510343.1:p.Glu211Lys
XM_011512043.2:c.166G>A	XP_011510345.1:p.Glu56Lys
XR_001739007.2:n.918G>A
NM_003659.4:c.901G>A MANE Select	NP_003650.1:p.Glu301Lys