Canonical Allele Identifier: CA407184020

Gene: PPP2R1A

Linked Data

• dbSNP Id: rs778270058
• MyVariant Identifiers: chr19:g.52716060T>A (hg19) ; chr19:g.52212807T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52212807T>A , CM000681.2:g.52212807T>A	GRCh38
NC_000019.9:g.52716060T>A , CM000681.1:g.52716060T>A	GRCh37
NC_000019.8:g.57407872T>A	NCBI36
NG_047068.1:g.28006T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454220.7:c.745T>A	ENSP00000391905.3:p.Phe249Ile
ENST00000703395.1:c.88T>A	ENSP00000515286.1:p.Phe30Ile
ENST00000703396.1:n.569T>A
ENST00000703397.1:c.88T>A	ENSP00000515287.1:p.Phe30Ile
ENST00000703398.1:c.667T>A	ENSP00000515288.1:p.Phe223Ile
ENST00000703421.1:n.778T>A
ENST00000703422.1:c.601T>A	ENSP00000515292.1:p.Phe201Ile
ENST00000703423.1:c.88T>A	ENSP00000515293.1:p.Phe30Ile
ENST00000322088.11:c.625T>A MANE Select	ENSP00000324804.6:p.Phe209Ile
ENST00000322088.10:c.625T>A	ENSP00000324804.6:p.Phe209Ile
ENST00000454220.6:c.745T>A	ENSP00000391905.2:p.Phe249Ile
ENST00000462047.1:n.316T>A
ENST00000462990.5:c.88T>A	ENSP00000470504.1:p.Phe30Ile
NM_014225.5:c.625T>A	NP_055040.2:p.Phe209Ile
NR_033500.1:n.819T>A
NM_001363656.1:c.88T>A	NP_001350585.1:p.Phe30Ile
NM_014225.6:c.625T>A MANE Select	NP_055040.2:p.Phe209Ile
NM_001363656.2:c.88T>A	NP_001350585.1:p.Phe30Ile
NR_033500.2:n.569T>A