Canonical Allele Identifier: CA349373913

Gene: AGPS

Linked Data

• MyVariant Identifiers: chr2:g.178386026G>T (hg19) ; chr2:g.177521298G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.177521298G>T , CM000664.2:g.177521298G>T	GRCh38
NC_000002.11:g.178386026G>T , CM000664.1:g.178386026G>T	GRCh37
NC_000002.10:g.178094272G>T	NCBI36
NG_008968.1:g.133556G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264167.11:c.1727G>T MANE Select	ENSP00000264167.4:p.Cys576Phe
ENST00000637633.2:c.1727G>T	ENSP00000490844.2:p.Cys576Phe
ENST00000642466.2:c.1727G>T	ENSP00000494433.2:p.Cys576Phe
ENST00000679421.1:n.2956G>T
ENST00000679459.1:c.1727G>T	ENSP00000506137.1:p.Cys576Phe
ENST00000679478.1:c.1457G>T	ENSP00000506484.1:p.Cys486Phe
ENST00000679994.1:c.1457G>T	ENSP00000504957.1:p.Cys486Phe
ENST00000680028.1:n.3091G>T
ENST00000680155.1:c.1457G>T	ENSP00000505333.1:p.Cys486Phe
ENST00000680390.1:n.762G>T
ENST00000680770.1:c.1727G>T	ENSP00000505536.1:p.Cys576Phe
ENST00000680893.1:c.*975G>T	ENSP00000505929.1:n.*975G>T
ENST00000681028.1:c.*154G>T	ENSP00000506323.1:n.*154G>T
ENST00000681032.1:c.*1105G>T	ENSP00000505205.1:n.*1105G>T
ENST00000681300.1:n.682G>T
ENST00000681449.1:c.1457G>T	ENSP00000505342.1:p.Cys486Phe
ENST00000681565.1:c.*860G>T	ENSP00000505620.1:n.*860G>T
ENST00000681752.1:c.*1497G>T	ENSP00000504994.1:n.*1497G>T
ENST00000681891.1:n.5362G>T
ENST00000264167.8:c.1727G>T	ENSP00000264167.4:p.Cys576Phe
ENST00000409888.1:c.351-31G>T	ENSP00000386688.1:n.351-31G>T
NM_003659.3:c.1727G>T	NP_003650.1:p.Cys576Phe
XM_011512041.1:c.1457G>T	XP_011510343.1:p.Cys486Phe
XM_011512042.1:c.1457G>T	XP_011510344.1:p.Cys486Phe
XM_011512043.1:c.992G>T	XP_011510345.1:p.Cys331Phe
XM_011512041.2:c.1457G>T	XP_011510343.1:p.Cys486Phe
XM_011512043.2:c.992G>T	XP_011510345.1:p.Cys331Phe
XR_001739007.2:n.1635G>T
NM_003659.4:c.1727G>T MANE Select	NP_003650.1:p.Cys576Phe