Canonical Allele Identifier: CA1980194

Gene: AGPS

Linked Data

• ClinVar Variation Id: 1099116
• ClinVar RCV Id: RCV001421314
• dbSNP Id: rs770061901
• ExAC: 2:178326753 A / G
• gnomAD v2: 2-178326753-A-G
• gnomAD v3: 2-177462025-A-G
• gnomAD v4: 2-177462025-A-G
• MyVariant Identifiers: chr2:g.178326753A>G (hg19) ; chr2:g.177462025A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.177462025A>G , CM000664.2:g.177462025A>G	GRCh38
NC_000002.11:g.178326753A>G , CM000664.1:g.178326753A>G	GRCh37
NC_000002.10:g.178034999A>G	NCBI36
NG_008968.1:g.74283A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264167.11:c.996+7A>G MANE Select	ENSP00000264167.4:n.996+7A>G
ENST00000460342.2:n.2415A>G
ENST00000637633.2:c.996+7A>G	ENSP00000490844.2:n.996+7A>G
ENST00000642466.2:c.996+7A>G	ENSP00000494433.2:n.996+7A>G
ENST00000679421.1:n.2225+7A>G
ENST00000679459.1:c.996+7A>G	ENSP00000506137.1:n.996+7A>G
ENST00000679478.1:c.726+7A>G	ENSP00000506484.1:n.726+7A>G
ENST00000679639.1:n.806A>G
ENST00000679994.1:c.726+7A>G	ENSP00000504957.1:n.726+7A>G
ENST00000680028.1:n.2360+7A>G
ENST00000680155.1:c.726+7A>G	ENSP00000505333.1:n.726+7A>G
ENST00000680705.1:n.1040+7A>G
ENST00000680770.1:c.996+7A>G	ENSP00000505536.1:n.996+7A>G
ENST00000680893.1:c.*244+7A>G	ENSP00000505929.1:n.*244+7A>G
ENST00000680910.1:n.1026+7A>G
ENST00000681028.1:c.726+7A>G	ENSP00000506323.1:n.726+7A>G
ENST00000681032.1:c.*374+7A>G	ENSP00000505205.1:n.*374+7A>G
ENST00000681449.1:c.726+7A>G	ENSP00000505342.1:n.726+7A>G
ENST00000681565.1:c.996+7A>G	ENSP00000505620.1:n.996+7A>G
ENST00000681752.1:c.*766+7A>G	ENSP00000504994.1:n.*766+7A>G
ENST00000681891.1:n.4740+7A>G
ENST00000264167.8:c.996+7A>G	ENSP00000264167.4:n.996+7A>G
ENST00000409888.1:c.350+41667A>G	ENSP00000386688.1:n.350+41667A>G
NM_003659.3:c.996+7A>G	NP_003650.1:n.996+7A>G
XM_011512041.1:c.726+7A>G	XP_011510343.1:n.726+7A>G
XM_011512042.1:c.726+7A>G	XP_011510344.1:n.726+7A>G
XM_011512043.1:c.261+7A>G	XP_011510345.1:n.261+7A>G
XM_011512044.1:c.996+7A>G	XP_011510346.1:n.996+7A>G
XM_011512045.1:c.996+7A>G	XP_011510347.1:n.996+7A>G
XM_011512041.2:c.726+7A>G	XP_011510343.1:n.726+7A>G
XM_011512043.2:c.261+7A>G	XP_011510345.1:n.261+7A>G
XR_001739007.2:n.1013+7A>G
NM_003659.4:c.996+7A>G MANE Select	NP_003650.1:n.996+7A>G