Canonical Allele Identifier: CA349704500

Gene: AGPS

Linked Data

• MyVariant Identifiers: chr2:g.178326723A>C (hg19) ; chr2:g.177461995A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.177461995A>C , CM000664.2:g.177461995A>C	GRCh38
NC_000002.11:g.178326723A>C , CM000664.1:g.178326723A>C	GRCh37
NC_000002.10:g.178034969A>C	NCBI36
NG_008968.1:g.74253A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264167.11:c.973A>C MANE Select	ENSP00000264167.4:p.Ile325Leu
ENST00000460342.2:n.2385A>C
ENST00000637633.2:c.973A>C	ENSP00000490844.2:p.Ile325Leu
ENST00000642466.2:c.973A>C	ENSP00000494433.2:p.Ile325Leu
ENST00000679421.1:n.2202A>C
ENST00000679459.1:c.973A>C	ENSP00000506137.1:p.Ile325Leu
ENST00000679478.1:c.703A>C	ENSP00000506484.1:p.Ile235Leu
ENST00000679639.1:n.776A>C
ENST00000679994.1:c.703A>C	ENSP00000504957.1:p.Ile235Leu
ENST00000680028.1:n.2337A>C
ENST00000680155.1:c.703A>C	ENSP00000505333.1:p.Ile235Leu
ENST00000680705.1:n.1017A>C
ENST00000680770.1:c.973A>C	ENSP00000505536.1:p.Ile325Leu
ENST00000680893.1:c.*221A>C	ENSP00000505929.1:n.*221A>C
ENST00000680910.1:n.1003A>C
ENST00000681028.1:c.703A>C	ENSP00000506323.1:p.Ile235Leu
ENST00000681032.1:c.*351A>C	ENSP00000505205.1:n.*351A>C
ENST00000681449.1:c.703A>C	ENSP00000505342.1:p.Ile235Leu
ENST00000681565.1:c.973A>C	ENSP00000505620.1:p.Ile325Leu
ENST00000681752.1:c.*743A>C	ENSP00000504994.1:n.*743A>C
ENST00000681891.1:n.4717A>C
ENST00000264167.8:c.973A>C	ENSP00000264167.4:p.Ile325Leu
ENST00000409888.1:c.350+41637A>C	ENSP00000386688.1:n.350+41637A>C
NM_003659.3:c.973A>C	NP_003650.1:p.Ile325Leu
XM_011512041.1:c.703A>C	XP_011510343.1:p.Ile235Leu
XM_011512042.1:c.703A>C	XP_011510344.1:p.Ile235Leu
XM_011512043.1:c.238A>C	XP_011510345.1:p.Ile80Leu
XM_011512044.1:c.973A>C	XP_011510346.1:p.Ile325Leu
XM_011512045.1:c.973A>C	XP_011510347.1:p.Ile325Leu
XM_011512041.2:c.703A>C	XP_011510343.1:p.Ile235Leu
XM_011512043.2:c.238A>C	XP_011510345.1:p.Ile80Leu
XR_001739007.2:n.990A>C
NM_003659.4:c.973A>C MANE Select	NP_003650.1:p.Ile325Leu