Canonical Allele Identifier: CA349373917

Gene: AGPS

Linked Data

• MyVariant Identifiers: chr2:g.178386027T>G (hg19) ; chr2:g.177521299T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.177521299T>G , CM000664.2:g.177521299T>G	GRCh38
NC_000002.11:g.178386027T>G , CM000664.1:g.178386027T>G	GRCh37
NC_000002.10:g.178094273T>G	NCBI36
NG_008968.1:g.133557T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264167.11:c.1728T>G MANE Select	ENSP00000264167.4:p.Cys576Trp
ENST00000637633.2:c.1728T>G	ENSP00000490844.2:p.Cys576Trp
ENST00000642466.2:c.1728T>G	ENSP00000494433.2:p.Cys576Trp
ENST00000679421.1:n.2957T>G
ENST00000679459.1:c.1728T>G	ENSP00000506137.1:p.Cys576Trp
ENST00000679478.1:c.1458T>G	ENSP00000506484.1:p.Cys486Trp
ENST00000679994.1:c.1458T>G	ENSP00000504957.1:p.Cys486Trp
ENST00000680028.1:n.3092T>G
ENST00000680155.1:c.1458T>G	ENSP00000505333.1:p.Cys486Trp
ENST00000680390.1:n.763T>G
ENST00000680770.1:c.1728T>G	ENSP00000505536.1:p.Cys576Trp
ENST00000680893.1:c.*976T>G	ENSP00000505929.1:n.*976T>G
ENST00000681028.1:c.*155T>G	ENSP00000506323.1:n.*155T>G
ENST00000681032.1:c.*1106T>G	ENSP00000505205.1:n.*1106T>G
ENST00000681300.1:n.683T>G
ENST00000681449.1:c.1458T>G	ENSP00000505342.1:p.Cys486Trp
ENST00000681565.1:c.*861T>G	ENSP00000505620.1:n.*861T>G
ENST00000681752.1:c.*1498T>G	ENSP00000504994.1:n.*1498T>G
ENST00000681891.1:n.5363T>G
ENST00000264167.8:c.1728T>G	ENSP00000264167.4:p.Cys576Trp
ENST00000409888.1:c.351-30T>G	ENSP00000386688.1:n.351-30T>G
NM_003659.3:c.1728T>G	NP_003650.1:p.Cys576Trp
XM_011512041.1:c.1458T>G	XP_011510343.1:p.Cys486Trp
XM_011512042.1:c.1458T>G	XP_011510344.1:p.Cys486Trp
XM_011512043.1:c.993T>G	XP_011510345.1:p.Cys331Trp
XM_011512041.2:c.1458T>G	XP_011510343.1:p.Cys486Trp
XM_011512043.2:c.993T>G	XP_011510345.1:p.Cys331Trp
XR_001739007.2:n.1636T>G
NM_003659.4:c.1728T>G MANE Select	NP_003650.1:p.Cys576Trp