Canonical Allele Identifier: CA349374012

Gene: AGPS

Linked Data

• dbSNP Id: rs1354044555
• gnomAD v2: 2-178386037-T-C
• gnomAD v4: 2-177521309-T-C
• MyVariant Identifiers: chr2:g.178386037T>C (hg19) ; chr2:g.177521309T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.177521309T>C , CM000664.2:g.177521309T>C	GRCh38
NC_000002.11:g.178386037T>C , CM000664.1:g.178386037T>C	GRCh37
NC_000002.10:g.178094283T>C	NCBI36
NG_008968.1:g.133567T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264167.11:c.1738T>C MANE Select	ENSP00000264167.4:p.Tyr580His
ENST00000637633.2:c.1738T>C	ENSP00000490844.2:p.Tyr580His
ENST00000642466.2:c.1738T>C	ENSP00000494433.2:p.Tyr580His
ENST00000679421.1:n.2967T>C
ENST00000679459.1:c.1738T>C	ENSP00000506137.1:p.Tyr580His
ENST00000679478.1:c.1468T>C	ENSP00000506484.1:p.Tyr490His
ENST00000679994.1:c.1468T>C	ENSP00000504957.1:p.Tyr490His
ENST00000680028.1:n.3102T>C
ENST00000680155.1:c.1468T>C	ENSP00000505333.1:p.Tyr490His
ENST00000680390.1:n.773T>C
ENST00000680770.1:c.1738T>C	ENSP00000505536.1:p.Tyr580His
ENST00000680893.1:c.*986T>C	ENSP00000505929.1:n.*986T>C
ENST00000681028.1:c.*165T>C	ENSP00000506323.1:n.*165T>C
ENST00000681032.1:c.*1116T>C	ENSP00000505205.1:n.*1116T>C
ENST00000681300.1:n.693T>C
ENST00000681449.1:c.1468T>C	ENSP00000505342.1:p.Tyr490His
ENST00000681565.1:c.*871T>C	ENSP00000505620.1:n.*871T>C
ENST00000681752.1:c.*1508T>C	ENSP00000504994.1:n.*1508T>C
ENST00000681891.1:n.5373T>C
ENST00000264167.8:c.1738T>C	ENSP00000264167.4:p.Tyr580His
ENST00000409888.1:c.351-20T>C	ENSP00000386688.1:n.351-20T>C
NM_003659.3:c.1738T>C	NP_003650.1:p.Tyr580His
XM_011512041.1:c.1468T>C	XP_011510343.1:p.Tyr490His
XM_011512042.1:c.1468T>C	XP_011510344.1:p.Tyr490His
XM_011512043.1:c.1003T>C	XP_011510345.1:p.Tyr335His
XM_011512041.2:c.1468T>C	XP_011510343.1:p.Tyr490His
XM_011512043.2:c.1003T>C	XP_011510345.1:p.Tyr335His
XR_001739007.2:n.1646T>C
NM_003659.4:c.1738T>C MANE Select	NP_003650.1:p.Tyr580His