Canonical Allele Identifier: CA1980419

Gene: AGPS

Linked Data

• dbSNP Id: rs774467690
• ExAC: 2:178386029 T / A
• gnomAD v2: 2-178386029-T-A
• gnomAD v4: 2-177521301-T-A
• MyVariant Identifiers: chr2:g.178386029T>A (hg19) ; chr2:g.177521301T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.177521301T>A , CM000664.2:g.177521301T>A	GRCh38
NC_000002.11:g.178386029T>A , CM000664.1:g.178386029T>A	GRCh37
NC_000002.10:g.178094275T>A	NCBI36
NG_008968.1:g.133559T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264167.11:c.1730T>A MANE Select	ENSP00000264167.4:p.Ile577Asn
ENST00000637633.2:c.1730T>A	ENSP00000490844.2:p.Ile577Asn
ENST00000642466.2:c.1730T>A	ENSP00000494433.2:p.Ile577Asn
ENST00000679421.1:n.2959T>A
ENST00000679459.1:c.1730T>A	ENSP00000506137.1:p.Ile577Asn
ENST00000679478.1:c.1460T>A	ENSP00000506484.1:p.Ile487Asn
ENST00000679994.1:c.1460T>A	ENSP00000504957.1:p.Ile487Asn
ENST00000680028.1:n.3094T>A
ENST00000680155.1:c.1460T>A	ENSP00000505333.1:p.Ile487Asn
ENST00000680390.1:n.765T>A
ENST00000680770.1:c.1730T>A	ENSP00000505536.1:p.Ile577Asn
ENST00000680893.1:c.*978T>A	ENSP00000505929.1:n.*978T>A
ENST00000681028.1:c.*157T>A	ENSP00000506323.1:n.*157T>A
ENST00000681032.1:c.*1108T>A	ENSP00000505205.1:n.*1108T>A
ENST00000681300.1:n.685T>A
ENST00000681449.1:c.1460T>A	ENSP00000505342.1:p.Ile487Asn
ENST00000681565.1:c.*863T>A	ENSP00000505620.1:n.*863T>A
ENST00000681752.1:c.*1500T>A	ENSP00000504994.1:n.*1500T>A
ENST00000681891.1:n.5365T>A
ENST00000264167.8:c.1730T>A	ENSP00000264167.4:p.Ile577Asn
ENST00000409888.1:c.351-28T>A	ENSP00000386688.1:n.351-28T>A
NM_003659.3:c.1730T>A	NP_003650.1:p.Ile577Asn
XM_011512041.1:c.1460T>A	XP_011510343.1:p.Ile487Asn
XM_011512042.1:c.1460T>A	XP_011510344.1:p.Ile487Asn
XM_011512043.1:c.995T>A	XP_011510345.1:p.Ile332Asn
XM_011512041.2:c.1460T>A	XP_011510343.1:p.Ile487Asn
XM_011512043.2:c.995T>A	XP_011510345.1:p.Ile332Asn
XR_001739007.2:n.1638T>A
NM_003659.4:c.1730T>A MANE Select	NP_003650.1:p.Ile577Asn