Canonical Allele Identifier: CA349364168

Gene: AGPS

Linked Data

• gnomAD v4: 2-177493181-A-C
• MyVariant Identifiers: chr2:g.178357909A>C (hg19) ; chr2:g.177493181A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.177493181A>C , CM000664.2:g.177493181A>C	GRCh38
NC_000002.11:g.178357909A>C , CM000664.1:g.178357909A>C	GRCh37
NC_000002.10:g.178066155A>C	NCBI36
NG_008968.1:g.105439A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264167.11:c.1267A>C MANE Select	ENSP00000264167.4:p.Asn423His
ENST00000637633.2:c.1267A>C	ENSP00000490844.2:p.Asn423His
ENST00000642466.2:c.1267A>C	ENSP00000494433.2:p.Asn423His
ENST00000679421.1:n.2496A>C
ENST00000679459.1:c.1267A>C	ENSP00000506137.1:p.Asn423His
ENST00000679478.1:c.997A>C	ENSP00000506484.1:p.Asn333His
ENST00000679994.1:c.997A>C	ENSP00000504957.1:p.Asn333His
ENST00000680028.1:n.2631A>C
ENST00000680155.1:c.997A>C	ENSP00000505333.1:p.Asn333His
ENST00000680390.1:n.302A>C
ENST00000680705.1:n.1311A>C
ENST00000680770.1:c.1267A>C	ENSP00000505536.1:p.Asn423His
ENST00000680893.1:c.*515A>C	ENSP00000505929.1:n.*515A>C
ENST00000680910.1:n.1297A>C
ENST00000681028.1:c.997A>C	ENSP00000506323.1:p.Asn333His
ENST00000681032.1:c.*645A>C	ENSP00000505205.1:n.*645A>C
ENST00000681300.1:n.222A>C
ENST00000681449.1:c.997A>C	ENSP00000505342.1:p.Asn333His
ENST00000681565.1:c.*400A>C	ENSP00000505620.1:n.*400A>C
ENST00000681752.1:c.*1037A>C	ENSP00000504994.1:n.*1037A>C
ENST00000681891.1:n.4902A>C
ENST00000264167.8:c.1267A>C	ENSP00000264167.4:p.Asn423His
ENST00000409888.1:c.351-28148A>C	ENSP00000386688.1:n.351-28148A>C
NM_003659.3:c.1267A>C	NP_003650.1:p.Asn423His
XM_011512041.1:c.997A>C	XP_011510343.1:p.Asn333His
XM_011512042.1:c.997A>C	XP_011510344.1:p.Asn333His
XM_011512043.1:c.532A>C	XP_011510345.1:p.Asn178His
XM_011512041.2:c.997A>C	XP_011510343.1:p.Asn333His
XM_011512043.2:c.532A>C	XP_011510345.1:p.Asn178His
XR_001739007.2:n.1175A>C
NM_003659.4:c.1267A>C MANE Select	NP_003650.1:p.Asn423His