Canonical Allele Identifier: CA349374070

Gene: AGPS

Linked Data

• MyVariant Identifiers: chr2:g.178386041T>A (hg19) ; chr2:g.177521313T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.177521313T>A , CM000664.2:g.177521313T>A	GRCh38
NC_000002.11:g.178386041T>A , CM000664.1:g.178386041T>A	GRCh37
NC_000002.10:g.178094287T>A	NCBI36
NG_008968.1:g.133571T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264167.11:c.1742T>A MANE Select	ENSP00000264167.4:p.Phe581Tyr
ENST00000637633.2:c.1742T>A	ENSP00000490844.2:p.Phe581Tyr
ENST00000642466.2:c.1742T>A	ENSP00000494433.2:p.Phe581Tyr
ENST00000679421.1:n.2971T>A
ENST00000679459.1:c.1742T>A	ENSP00000506137.1:p.Phe581Tyr
ENST00000679478.1:c.1472T>A	ENSP00000506484.1:p.Phe491Tyr
ENST00000679994.1:c.1472T>A	ENSP00000504957.1:p.Phe491Tyr
ENST00000680028.1:n.3106T>A
ENST00000680155.1:c.1472T>A	ENSP00000505333.1:p.Phe491Tyr
ENST00000680390.1:n.777T>A
ENST00000680770.1:c.1742T>A	ENSP00000505536.1:p.Phe581Tyr
ENST00000680893.1:c.*990T>A	ENSP00000505929.1:n.*990T>A
ENST00000681028.1:c.*169T>A	ENSP00000506323.1:n.*169T>A
ENST00000681032.1:c.*1120T>A	ENSP00000505205.1:n.*1120T>A
ENST00000681300.1:n.697T>A
ENST00000681449.1:c.1472T>A	ENSP00000505342.1:p.Phe491Tyr
ENST00000681565.1:c.*875T>A	ENSP00000505620.1:n.*875T>A
ENST00000681752.1:c.*1512T>A	ENSP00000504994.1:n.*1512T>A
ENST00000681891.1:n.5377T>A
ENST00000264167.8:c.1742T>A	ENSP00000264167.4:p.Phe581Tyr
ENST00000409888.1:c.351-16T>A	ENSP00000386688.1:n.351-16T>A
NM_003659.3:c.1742T>A	NP_003650.1:p.Phe581Tyr
XM_011512041.1:c.1472T>A	XP_011510343.1:p.Phe491Tyr
XM_011512042.1:c.1472T>A	XP_011510344.1:p.Phe491Tyr
XM_011512043.1:c.1007T>A	XP_011510345.1:p.Phe336Tyr
XM_011512041.2:c.1472T>A	XP_011510343.1:p.Phe491Tyr
XM_011512043.2:c.1007T>A	XP_011510345.1:p.Phe336Tyr
XR_001739007.2:n.1650T>A
NM_003659.4:c.1742T>A MANE Select	NP_003650.1:p.Phe581Tyr