Canonical Allele Identifier: CA1980418

Gene: AGPS

Linked Data

• ClinVar Variation Id: 1588678
• ClinVar RCV Id: RCV002098392
• dbSNP Id: rs771009367
• ExAC: 2:178386018 A / T
• gnomAD v2: 2-178386018-A-T
• gnomAD v4: 2-177521290-A-T
• MyVariant Identifiers: chr2:g.178386018A>T (hg19) ; chr2:g.177521290A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.177521290A>T , CM000664.2:g.177521290A>T	GRCh38
NC_000002.11:g.178386018A>T , CM000664.1:g.178386018A>T	GRCh37
NC_000002.10:g.178094264A>T	NCBI36
NG_008968.1:g.133548A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264167.11:c.1719A>T MANE Select	ENSP00000264167.4:p.Ala573=
ENST00000637633.2:c.1719A>T	ENSP00000490844.2:p.Ala573=
ENST00000642466.2:c.1719A>T	ENSP00000494433.2:p.Ala573=
ENST00000679421.1:n.2948A>T
ENST00000679459.1:c.1719A>T	ENSP00000506137.1:p.Ala573=
ENST00000679478.1:c.1449A>T	ENSP00000506484.1:p.Ala483=
ENST00000679994.1:c.1449A>T	ENSP00000504957.1:p.Ala483=
ENST00000680028.1:n.3083A>T
ENST00000680155.1:c.1449A>T	ENSP00000505333.1:p.Ala483=
ENST00000680390.1:n.754A>T
ENST00000680770.1:c.1719A>T	ENSP00000505536.1:p.Ala573=
ENST00000680893.1:c.*967A>T	ENSP00000505929.1:n.*967A>T
ENST00000681028.1:c.*146A>T	ENSP00000506323.1:n.*146A>T
ENST00000681032.1:c.*1097A>T	ENSP00000505205.1:n.*1097A>T
ENST00000681300.1:n.674A>T
ENST00000681449.1:c.1449A>T	ENSP00000505342.1:p.Ala483=
ENST00000681565.1:c.*852A>T	ENSP00000505620.1:n.*852A>T
ENST00000681752.1:c.*1489A>T	ENSP00000504994.1:n.*1489A>T
ENST00000681891.1:n.5354A>T
ENST00000264167.8:c.1719A>T	ENSP00000264167.4:p.Ala573=
ENST00000409888.1:c.351-39A>T	ENSP00000386688.1:n.351-39A>T
NM_003659.3:c.1719A>T	NP_003650.1:p.Ala573=
XM_011512041.1:c.1449A>T	XP_011510343.1:p.Ala483=
XM_011512042.1:c.1449A>T	XP_011510344.1:p.Ala483=
XM_011512043.1:c.984A>T	XP_011510345.1:p.Ala328=
XM_011512041.2:c.1449A>T	XP_011510343.1:p.Ala483=
XM_011512043.2:c.984A>T	XP_011510345.1:p.Ala328=
XR_001739007.2:n.1627A>T
NM_003659.4:c.1719A>T MANE Select	NP_003650.1:p.Ala573=