Canonical Allele Identifier: CA349364065

Gene: AGPS

Linked Data

• MyVariant Identifiers: chr2:g.178357900C>A (hg19) ; chr2:g.177493172C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.177493172C>A , CM000664.2:g.177493172C>A	GRCh38
NC_000002.11:g.178357900C>A , CM000664.1:g.178357900C>A	GRCh37
NC_000002.10:g.178066146C>A	NCBI36
NG_008968.1:g.105430C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264167.11:c.1258C>A MANE Select	ENSP00000264167.4:p.Leu420Ile
ENST00000637633.2:c.1258C>A	ENSP00000490844.2:p.Leu420Ile
ENST00000642466.2:c.1258C>A	ENSP00000494433.2:p.Leu420Ile
ENST00000679421.1:n.2487C>A
ENST00000679459.1:c.1258C>A	ENSP00000506137.1:p.Leu420Ile
ENST00000679478.1:c.988C>A	ENSP00000506484.1:p.Leu330Ile
ENST00000679994.1:c.988C>A	ENSP00000504957.1:p.Leu330Ile
ENST00000680028.1:n.2622C>A
ENST00000680155.1:c.988C>A	ENSP00000505333.1:p.Leu330Ile
ENST00000680390.1:n.293C>A
ENST00000680705.1:n.1302C>A
ENST00000680770.1:c.1258C>A	ENSP00000505536.1:p.Leu420Ile
ENST00000680893.1:c.*506C>A	ENSP00000505929.1:n.*506C>A
ENST00000680910.1:n.1288C>A
ENST00000681028.1:c.988C>A	ENSP00000506323.1:p.Leu330Ile
ENST00000681032.1:c.*636C>A	ENSP00000505205.1:n.*636C>A
ENST00000681300.1:n.213C>A
ENST00000681449.1:c.988C>A	ENSP00000505342.1:p.Leu330Ile
ENST00000681565.1:c.*391C>A	ENSP00000505620.1:n.*391C>A
ENST00000681752.1:c.*1028C>A	ENSP00000504994.1:n.*1028C>A
ENST00000681891.1:n.4893C>A
ENST00000264167.8:c.1258C>A	ENSP00000264167.4:p.Leu420Ile
ENST00000409888.1:c.351-28157C>A	ENSP00000386688.1:n.351-28157C>A
NM_003659.3:c.1258C>A	NP_003650.1:p.Leu420Ile
XM_011512041.1:c.988C>A	XP_011510343.1:p.Leu330Ile
XM_011512042.1:c.988C>A	XP_011510344.1:p.Leu330Ile
XM_011512043.1:c.523C>A	XP_011510345.1:p.Leu175Ile
XM_011512041.2:c.988C>A	XP_011510343.1:p.Leu330Ile
XM_011512043.2:c.523C>A	XP_011510345.1:p.Leu175Ile
XR_001739007.2:n.1166C>A
NM_003659.4:c.1258C>A MANE Select	NP_003650.1:p.Leu420Ile