Canonical Allele Identifier: CA508826404

Gene: PPP2R1A

Linked Data

• ClinVar Variation Id: 1606854
• ClinVar RCV Id: RCV002139539
• dbSNP Id: rs201816987
• gnomAD v2: 19-52715972-C-A
• gnomAD v4: 19-52212719-C-A
• MyVariant Identifiers: chr19:g.52715972C>A (hg19) ; chr19:g.52212719C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52212719C>A , CM000681.2:g.52212719C>A	GRCh38
NC_000019.9:g.52715972C>A , CM000681.1:g.52715972C>A	GRCh37
NC_000019.8:g.57407784C>A	NCBI36
NG_047068.1:g.27918C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454220.7:c.657C>A	ENSP00000391905.3:p.Pro219=
ENST00000703395.1:c.-1C>A	ENSP00000515286.1:n.-1C>A
ENST00000703396.1:n.481C>A
ENST00000703397.1:c.-1C>A	ENSP00000515287.1:n.-1C>A
ENST00000703398.1:c.579C>A	ENSP00000515288.1:p.Pro193=
ENST00000703421.1:n.690C>A
ENST00000703422.1:c.513C>A	ENSP00000515292.1:p.Pro171=
ENST00000703423.1:c.-1C>A	ENSP00000515293.1:n.-1C>A
ENST00000322088.11:c.537C>A MANE Select	ENSP00000324804.6:p.Pro179=
ENST00000322088.10:c.537C>A	ENSP00000324804.6:p.Pro179=
ENST00000454220.6:c.657C>A	ENSP00000391905.2:p.Pro219=
ENST00000462047.1:n.228C>A
ENST00000462990.5:c.-1C>A	ENSP00000470504.1:n.-1C>A
NM_014225.5:c.537C>A	NP_055040.2:p.Pro179=
NR_033500.1:n.731C>A
NM_001363656.1:c.-1C>A	NP_001350585.1:n.-1C>A
NM_014225.6:c.537C>A MANE Select	NP_055040.2:p.Pro179=
NM_001363656.2:c.-1C>A	NP_001350585.1:n.-1C>A
NR_033500.2:n.481C>A