Canonical Allele Identifier: CA349364114

Gene: AGPS

Linked Data

• MyVariant Identifiers: chr2:g.178357904T>G (hg19) ; chr2:g.177493176T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.177493176T>G , CM000664.2:g.177493176T>G	GRCh38
NC_000002.11:g.178357904T>G , CM000664.1:g.178357904T>G	GRCh37
NC_000002.10:g.178066150T>G	NCBI36
NG_008968.1:g.105434T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264167.11:c.1262T>G MANE Select	ENSP00000264167.4:p.Met421Arg
ENST00000637633.2:c.1262T>G	ENSP00000490844.2:p.Met421Arg
ENST00000642466.2:c.1262T>G	ENSP00000494433.2:p.Met421Arg
ENST00000679421.1:n.2491T>G
ENST00000679459.1:c.1262T>G	ENSP00000506137.1:p.Met421Arg
ENST00000679478.1:c.992T>G	ENSP00000506484.1:p.Met331Arg
ENST00000679994.1:c.992T>G	ENSP00000504957.1:p.Met331Arg
ENST00000680028.1:n.2626T>G
ENST00000680155.1:c.992T>G	ENSP00000505333.1:p.Met331Arg
ENST00000680390.1:n.297T>G
ENST00000680705.1:n.1306T>G
ENST00000680770.1:c.1262T>G	ENSP00000505536.1:p.Met421Arg
ENST00000680893.1:c.*510T>G	ENSP00000505929.1:n.*510T>G
ENST00000680910.1:n.1292T>G
ENST00000681028.1:c.992T>G	ENSP00000506323.1:p.Met331Arg
ENST00000681032.1:c.*640T>G	ENSP00000505205.1:n.*640T>G
ENST00000681300.1:n.217T>G
ENST00000681449.1:c.992T>G	ENSP00000505342.1:p.Met331Arg
ENST00000681565.1:c.*395T>G	ENSP00000505620.1:n.*395T>G
ENST00000681752.1:c.*1032T>G	ENSP00000504994.1:n.*1032T>G
ENST00000681891.1:n.4897T>G
ENST00000264167.8:c.1262T>G	ENSP00000264167.4:p.Met421Arg
ENST00000409888.1:c.351-28153T>G	ENSP00000386688.1:n.351-28153T>G
NM_003659.3:c.1262T>G	NP_003650.1:p.Met421Arg
XM_011512041.1:c.992T>G	XP_011510343.1:p.Met331Arg
XM_011512042.1:c.992T>G	XP_011510344.1:p.Met331Arg
XM_011512043.1:c.527T>G	XP_011510345.1:p.Met176Arg
XM_011512041.2:c.992T>G	XP_011510343.1:p.Met331Arg
XM_011512043.2:c.527T>G	XP_011510345.1:p.Met176Arg
XR_001739007.2:n.1170T>G
NM_003659.4:c.1262T>G MANE Select	NP_003650.1:p.Met421Arg