Canonical Allele Identifier: CA349373820

Gene: AGPS

Linked Data

• gnomAD v4: 2-177521283-A-G
• MyVariant Identifiers: chr2:g.178386011A>G (hg19) ; chr2:g.177521283A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.177521283A>G , CM000664.2:g.177521283A>G	GRCh38
NC_000002.11:g.178386011A>G , CM000664.1:g.178386011A>G	GRCh37
NC_000002.10:g.178094257A>G	NCBI36
NG_008968.1:g.133541A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264167.11:c.1712A>G MANE Select	ENSP00000264167.4:p.Tyr571Cys
ENST00000637633.2:c.1712A>G	ENSP00000490844.2:p.Tyr571Cys
ENST00000642466.2:c.1712A>G	ENSP00000494433.2:p.Tyr571Cys
ENST00000679421.1:n.2941A>G
ENST00000679459.1:c.1712A>G	ENSP00000506137.1:p.Tyr571Cys
ENST00000679478.1:c.1442A>G	ENSP00000506484.1:p.Tyr481Cys
ENST00000679994.1:c.1442A>G	ENSP00000504957.1:p.Tyr481Cys
ENST00000680028.1:n.3076A>G
ENST00000680155.1:c.1442A>G	ENSP00000505333.1:p.Tyr481Cys
ENST00000680390.1:n.747A>G
ENST00000680770.1:c.1712A>G	ENSP00000505536.1:p.Tyr571Cys
ENST00000680893.1:c.*960A>G	ENSP00000505929.1:n.*960A>G
ENST00000681028.1:c.*139A>G	ENSP00000506323.1:n.*139A>G
ENST00000681032.1:c.*1090A>G	ENSP00000505205.1:n.*1090A>G
ENST00000681300.1:n.667A>G
ENST00000681449.1:c.1442A>G	ENSP00000505342.1:p.Tyr481Cys
ENST00000681565.1:c.*845A>G	ENSP00000505620.1:n.*845A>G
ENST00000681752.1:c.*1482A>G	ENSP00000504994.1:n.*1482A>G
ENST00000681891.1:n.5347A>G
ENST00000264167.8:c.1712A>G	ENSP00000264167.4:p.Tyr571Cys
ENST00000409888.1:c.351-46A>G	ENSP00000386688.1:n.351-46A>G
NM_003659.3:c.1712A>G	NP_003650.1:p.Tyr571Cys
XM_011512041.1:c.1442A>G	XP_011510343.1:p.Tyr481Cys
XM_011512042.1:c.1442A>G	XP_011510344.1:p.Tyr481Cys
XM_011512043.1:c.977A>G	XP_011510345.1:p.Tyr326Cys
XM_011512041.2:c.1442A>G	XP_011510343.1:p.Tyr481Cys
XM_011512043.2:c.977A>G	XP_011510345.1:p.Tyr326Cys
XR_001739007.2:n.1620A>G
NM_003659.4:c.1712A>G MANE Select	NP_003650.1:p.Tyr571Cys