Canonical Allele Identifier: CA1980411

Gene: AGPS

Linked Data

• ClinVar Variation Id: 2874624
• ClinVar RCV Id: RCV003714616
• dbSNP Id: rs750329931
• ExAC: 2:178385979 AT / A
• gnomAD v2: 2-178385979-AT-A
• gnomAD v4: 2-177521251-AT-A
• MyVariant Identifiers: chr2:g.178385980del (hg19) ; chr2:g.177521252del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.177521255del , CM000664.2:g.177521255del	GRCh38
NC_000002.11:g.178385983del , CM000664.1:g.178385983del	GRCh37
NC_000002.10:g.178094229del	NCBI36
NG_008968.1:g.133513del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264167.11:c.1698-14del MANE Select	ENSP00000264167.4:n.1698-14del
ENST00000637633.2:c.1698-14del	ENSP00000490844.2:n.1698-14del
ENST00000642466.2:c.1698-14del	ENSP00000494433.2:n.1698-14del
ENST00000679421.1:n.2927-14del
ENST00000679459.1:c.1698-14del	ENSP00000506137.1:n.1698-14del
ENST00000679478.1:c.1428-14del	ENSP00000506484.1:n.1428-14del
ENST00000679994.1:c.1428-14del	ENSP00000504957.1:n.1428-14del
ENST00000680028.1:n.3062-14del
ENST00000680155.1:c.1428-14del	ENSP00000505333.1:n.1428-14del
ENST00000680390.1:n.733-14del
ENST00000680770.1:c.1698-14del	ENSP00000505536.1:n.1698-14del
ENST00000680893.1:c.*946-14del	ENSP00000505929.1:n.*946-14del
ENST00000681028.1:c.*125-14del	ENSP00000506323.1:n.*125-14del
ENST00000681032.1:c.*1076-14del	ENSP00000505205.1:n.*1076-14del
ENST00000681300.1:n.653-14del
ENST00000681449.1:c.1428-14del	ENSP00000505342.1:n.1428-14del
ENST00000681565.1:c.*831-14del	ENSP00000505620.1:n.*831-14del
ENST00000681752.1:c.*1468-14del	ENSP00000504994.1:n.*1468-14del
ENST00000681891.1:n.5333-14del
ENST00000264167.8:c.1698-14del	ENSP00000264167.4:n.1698-14del
ENST00000409888.1:c.351-74del	ENSP00000386688.1:n.351-74del
NM_003659.3:c.1698-14del	NP_003650.1:n.1698-14del
XM_011512041.1:c.1428-14del	XP_011510343.1:n.1428-14del
XM_011512042.1:c.1428-14del	XP_011510344.1:n.1428-14del
XM_011512043.1:c.963-14del	XP_011510345.1:n.963-14del
XM_011512041.2:c.1428-14del	XP_011510343.1:n.1428-14del
XM_011512043.2:c.963-14del	XP_011510345.1:n.963-14del
XR_001739007.2:n.1606-14del
NM_003659.4:c.1698-14del MANE Select	NP_003650.1:n.1698-14del