Canonical Allele Identifier: CA309865883

Gene: PPP2R1A

Linked Data

• dbSNP Id: rs1032313374
• gnomAD v2: 19-52716007-A-G
• gnomAD v4: 19-52212754-A-G
• MyVariant Identifiers: chr19:g.52716007A>G (hg19) ; chr19:g.52212754A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52212754A>G , CM000681.2:g.52212754A>G	GRCh38
NC_000019.9:g.52716007A>G , CM000681.1:g.52716007A>G	GRCh37
NC_000019.8:g.57407819A>G	NCBI36
NG_047068.1:g.27953A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454220.7:c.692A>G	ENSP00000391905.3:p.Glu231Gly
ENST00000703395.1:c.35A>G	ENSP00000515286.1:p.Glu12Gly
ENST00000703396.1:n.516A>G
ENST00000703397.1:c.35A>G	ENSP00000515287.1:p.Glu12Gly
ENST00000703398.1:c.614A>G	ENSP00000515288.1:p.Glu205Gly
ENST00000703421.1:n.725A>G
ENST00000703422.1:c.548A>G	ENSP00000515292.1:p.Glu183Gly
ENST00000703423.1:c.35A>G	ENSP00000515293.1:p.Glu12Gly
ENST00000322088.11:c.572A>G MANE Select	ENSP00000324804.6:p.Glu191Gly
ENST00000322088.10:c.572A>G	ENSP00000324804.6:p.Glu191Gly
ENST00000454220.6:c.692A>G	ENSP00000391905.2:p.Glu231Gly
ENST00000462047.1:n.263A>G
ENST00000462990.5:c.35A>G	ENSP00000470504.1:p.Glu12Gly
NM_014225.5:c.572A>G	NP_055040.2:p.Glu191Gly
NR_033500.1:n.766A>G
NM_001363656.1:c.35A>G	NP_001350585.1:p.Glu12Gly
NM_014225.6:c.572A>G MANE Select	NP_055040.2:p.Glu191Gly
NM_001363656.2:c.35A>G	NP_001350585.1:p.Glu12Gly
NR_033500.2:n.516A>G