Canonical Allele Identifier: CA349704426

Gene: AGPS

Linked Data

• MyVariant Identifiers: chr2:g.178326689G>T (hg19) ; chr2:g.177461961G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.177461961G>T , CM000664.2:g.177461961G>T	GRCh38
NC_000002.11:g.178326689G>T , CM000664.1:g.178326689G>T	GRCh37
NC_000002.10:g.178034935G>T	NCBI36
NG_008968.1:g.74219G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264167.11:c.939G>T MANE Select	ENSP00000264167.4:p.Trp313Cys
ENST00000460342.2:n.2351G>T
ENST00000637633.2:c.939G>T	ENSP00000490844.2:p.Trp313Cys
ENST00000642466.2:c.939G>T	ENSP00000494433.2:p.Trp313Cys
ENST00000679421.1:n.2168G>T
ENST00000679459.1:c.939G>T	ENSP00000506137.1:p.Trp313Cys
ENST00000679478.1:c.669G>T	ENSP00000506484.1:p.Trp223Cys
ENST00000679639.1:n.742G>T
ENST00000679994.1:c.669G>T	ENSP00000504957.1:p.Trp223Cys
ENST00000680028.1:n.2303G>T
ENST00000680155.1:c.669G>T	ENSP00000505333.1:p.Trp223Cys
ENST00000680705.1:n.983G>T
ENST00000680770.1:c.939G>T	ENSP00000505536.1:p.Trp313Cys
ENST00000680893.1:c.*187G>T	ENSP00000505929.1:n.*187G>T
ENST00000680910.1:n.969G>T
ENST00000681028.1:c.669G>T	ENSP00000506323.1:p.Trp223Cys
ENST00000681032.1:c.*317G>T	ENSP00000505205.1:n.*317G>T
ENST00000681449.1:c.669G>T	ENSP00000505342.1:p.Trp223Cys
ENST00000681565.1:c.939G>T	ENSP00000505620.1:p.Trp313Cys
ENST00000681752.1:c.*709G>T	ENSP00000504994.1:n.*709G>T
ENST00000681891.1:n.4683G>T
ENST00000264167.8:c.939G>T	ENSP00000264167.4:p.Trp313Cys
ENST00000409888.1:c.350+41603G>T	ENSP00000386688.1:n.350+41603G>T
NM_003659.3:c.939G>T	NP_003650.1:p.Trp313Cys
XM_011512041.1:c.669G>T	XP_011510343.1:p.Trp223Cys
XM_011512042.1:c.669G>T	XP_011510344.1:p.Trp223Cys
XM_011512043.1:c.204G>T	XP_011510345.1:p.Trp68Cys
XM_011512044.1:c.939G>T	XP_011510346.1:p.Trp313Cys
XM_011512045.1:c.939G>T	XP_011510347.1:p.Trp313Cys
XM_011512041.2:c.669G>T	XP_011510343.1:p.Trp223Cys
XM_011512043.2:c.204G>T	XP_011510345.1:p.Trp68Cys
XR_001739007.2:n.956G>T
NM_003659.4:c.939G>T MANE Select	NP_003650.1:p.Trp313Cys