Canonical Allele Identifier: CA349704292

Gene: AGPS

Linked Data

• MyVariant Identifiers: chr2:g.178326631G>C (hg19) ; chr2:g.177461903G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.177461903G>C , CM000664.2:g.177461903G>C	GRCh38
NC_000002.11:g.178326631G>C , CM000664.1:g.178326631G>C	GRCh37
NC_000002.10:g.178034877G>C	NCBI36
NG_008968.1:g.74161G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264167.11:c.881G>C MANE Select	ENSP00000264167.4:p.Ser294Thr
ENST00000460342.2:n.2293G>C
ENST00000637633.2:c.881G>C	ENSP00000490844.2:p.Ser294Thr
ENST00000642466.2:c.881G>C	ENSP00000494433.2:p.Ser294Thr
ENST00000679421.1:n.2110G>C
ENST00000679459.1:c.881G>C	ENSP00000506137.1:p.Ser294Thr
ENST00000679478.1:c.611G>C	ENSP00000506484.1:p.Ser204Thr
ENST00000679639.1:n.684G>C
ENST00000679994.1:c.611G>C	ENSP00000504957.1:p.Ser204Thr
ENST00000680028.1:n.2245G>C
ENST00000680155.1:c.611G>C	ENSP00000505333.1:p.Ser204Thr
ENST00000680705.1:n.925G>C
ENST00000680770.1:c.881G>C	ENSP00000505536.1:p.Ser294Thr
ENST00000680893.1:c.*129G>C	ENSP00000505929.1:n.*129G>C
ENST00000680910.1:n.911G>C
ENST00000681028.1:c.611G>C	ENSP00000506323.1:p.Ser204Thr
ENST00000681032.1:c.*259G>C	ENSP00000505205.1:n.*259G>C
ENST00000681449.1:c.611G>C	ENSP00000505342.1:p.Ser204Thr
ENST00000681565.1:c.881G>C	ENSP00000505620.1:p.Ser294Thr
ENST00000681752.1:c.*651G>C	ENSP00000504994.1:n.*651G>C
ENST00000681891.1:n.4625G>C
ENST00000264167.8:c.881G>C	ENSP00000264167.4:p.Ser294Thr
ENST00000409888.1:c.350+41545G>C	ENSP00000386688.1:n.350+41545G>C
NM_003659.3:c.881G>C	NP_003650.1:p.Ser294Thr
XM_011512041.1:c.611G>C	XP_011510343.1:p.Ser204Thr
XM_011512042.1:c.611G>C	XP_011510344.1:p.Ser204Thr
XM_011512043.1:c.146G>C	XP_011510345.1:p.Ser49Thr
XM_011512044.1:c.881G>C	XP_011510346.1:p.Ser294Thr
XM_011512045.1:c.881G>C	XP_011510347.1:p.Ser294Thr
XM_011512041.2:c.611G>C	XP_011510343.1:p.Ser204Thr
XM_011512043.2:c.146G>C	XP_011510345.1:p.Ser49Thr
XR_001739007.2:n.898G>C
NM_003659.4:c.881G>C MANE Select	NP_003650.1:p.Ser294Thr