Canonical Allele Identifier: CA430200576

Gene: AGPS

Linked Data

• ClinVar Variation Id: 1130565
• ClinVar RCV Id: RCV001464132
• dbSNP Id: rs2105666286
• gnomAD v4: 2-177461949-T-C
• MyVariant Identifiers: chr2:g.178326677T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.177461949T>C , CM000664.2:g.177461949T>C	GRCh38
NC_000002.11:g.178326677T>C , CM000664.1:g.178326677T>C	GRCh37
NC_000002.10:g.178034923T>C	NCBI36
NG_008968.1:g.74207T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264167.11:c.927T>C MANE Select	ENSP00000264167.4:p.Thr309=
ENST00000460342.2:n.2339T>C
ENST00000637633.2:c.927T>C	ENSP00000490844.2:p.Thr309=
ENST00000642466.2:c.927T>C	ENSP00000494433.2:p.Thr309=
ENST00000679421.1:n.2156T>C
ENST00000679459.1:c.927T>C	ENSP00000506137.1:p.Thr309=
ENST00000679478.1:c.657T>C	ENSP00000506484.1:p.Thr219=
ENST00000679639.1:n.730T>C
ENST00000679994.1:c.657T>C	ENSP00000504957.1:p.Thr219=
ENST00000680028.1:n.2291T>C
ENST00000680155.1:c.657T>C	ENSP00000505333.1:p.Thr219=
ENST00000680705.1:n.971T>C
ENST00000680770.1:c.927T>C	ENSP00000505536.1:p.Thr309=
ENST00000680893.1:c.*175T>C	ENSP00000505929.1:n.*175T>C
ENST00000680910.1:n.957T>C
ENST00000681028.1:c.657T>C	ENSP00000506323.1:p.Thr219=
ENST00000681032.1:c.*305T>C	ENSP00000505205.1:n.*305T>C
ENST00000681449.1:c.657T>C	ENSP00000505342.1:p.Thr219=
ENST00000681565.1:c.927T>C	ENSP00000505620.1:p.Thr309=
ENST00000681752.1:c.*697T>C	ENSP00000504994.1:n.*697T>C
ENST00000681891.1:n.4671T>C
ENST00000264167.8:c.927T>C	ENSP00000264167.4:p.Thr309=
ENST00000409888.1:c.350+41591T>C	ENSP00000386688.1:n.350+41591T>C
NM_003659.3:c.927T>C	NP_003650.1:p.Thr309=
XM_011512041.1:c.657T>C	XP_011510343.1:p.Thr219=
XM_011512042.1:c.657T>C	XP_011510344.1:p.Thr219=
XM_011512043.1:c.192T>C	XP_011510345.1:p.Thr64=
XM_011512044.1:c.927T>C	XP_011510346.1:p.Thr309=
XM_011512045.1:c.927T>C	XP_011510347.1:p.Thr309=
XM_011512041.2:c.657T>C	XP_011510343.1:p.Thr219=
XM_011512043.2:c.192T>C	XP_011510345.1:p.Thr64=
XR_001739007.2:n.944T>C
NM_003659.4:c.927T>C MANE Select	NP_003650.1:p.Thr309=