Canonical Allele Identifier: CA407183587

Gene: PPP2R1A

Linked Data

• ClinVar Variation Id: 1496324
• ClinVar RCV Id: RCV001991819
• dbSNP Id: rs1348762266
• gnomAD v2: 19-52715988-G-A
• gnomAD v4: 19-52212735-G-A
• COSMIC: COSM1395879
• MyVariant Identifiers: chr19:g.52715988G>A (hg19) ; chr19:g.52212735G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52212735G>A , CM000681.2:g.52212735G>A	GRCh38
NC_000019.9:g.52715988G>A , CM000681.1:g.52715988G>A	GRCh37
NC_000019.8:g.57407800G>A	NCBI36
NG_047068.1:g.27934G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454220.7:c.673G>A	ENSP00000391905.3:p.Ala225Thr
ENST00000703395.1:c.16G>A	ENSP00000515286.1:p.Ala6Thr
ENST00000703396.1:n.497G>A
ENST00000703397.1:c.16G>A	ENSP00000515287.1:p.Ala6Thr
ENST00000703398.1:c.595G>A	ENSP00000515288.1:p.Ala199Thr
ENST00000703421.1:n.706G>A
ENST00000703422.1:c.529G>A	ENSP00000515292.1:p.Ala177Thr
ENST00000703423.1:c.16G>A	ENSP00000515293.1:p.Ala6Thr
ENST00000322088.11:c.553G>A MANE Select	ENSP00000324804.6:p.Ala185Thr
ENST00000322088.10:c.553G>A	ENSP00000324804.6:p.Ala185Thr
ENST00000454220.6:c.673G>A	ENSP00000391905.2:p.Ala225Thr
ENST00000462047.1:n.244G>A
ENST00000462990.5:c.16G>A	ENSP00000470504.1:p.Ala6Thr
NM_014225.5:c.553G>A	NP_055040.2:p.Ala185Thr
NR_033500.1:n.747G>A
NM_001363656.1:c.16G>A	NP_001350585.1:p.Ala6Thr
NM_014225.6:c.553G>A MANE Select	NP_055040.2:p.Ala185Thr
NM_001363656.2:c.16G>A	NP_001350585.1:p.Ala6Thr
NR_033500.2:n.497G>A