Canonical Allele Identifier: CA508826413
Gene: PPP2R1A HGNC NCBI

Linked Data

dbSNP Id: rs2122334832
MyVariant Identifiers: chr19:g.52715984G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.52212731G>C , CM000681.2:g.52212731G>C GRCh38
NC_000019.9:g.52715984G>C , CM000681.1:g.52715984G>C GRCh37
NC_000019.8:g.57407796G>C NCBI36
NG_047068.1:g.27930G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000454220.7:c.669G>C ENSP00000391905.3:p.Arg223=
ENST00000703395.1:c.12G>C ENSP00000515286.1:p.Arg4=
ENST00000703396.1:n.493G>C
ENST00000703397.1:c.12G>C ENSP00000515287.1:p.Arg4=
ENST00000703398.1:c.591G>C ENSP00000515288.1:p.Arg197=
ENST00000703421.1:n.702G>C
ENST00000703422.1:c.525G>C ENSP00000515292.1:p.Arg175=
ENST00000703423.1:c.12G>C ENSP00000515293.1:p.Arg4=
ENST00000322088.11:c.549G>C MANE Select ENSP00000324804.6:p.Arg183=
ENST00000322088.10:c.549G>C ENSP00000324804.6:p.Arg183=
ENST00000454220.6:c.669G>C ENSP00000391905.2:p.Arg223=
ENST00000462047.1:n.240G>C
ENST00000462990.5:c.12G>C ENSP00000470504.1:p.Arg4=
NM_014225.5:c.549G>C NP_055040.2:p.Arg183=
NR_033500.1:n.743G>C
NM_001363656.1:c.12G>C NP_001350585.1:p.Arg4=
NM_014225.6:c.549G>C MANE Select NP_055040.2:p.Arg183=
NM_001363656.2:c.12G>C NP_001350585.1:p.Arg4=
NR_033500.2:n.493G>C