Canonical Allele Identifier: CA508826422
Gene: PPP2R1A HGNC NCBI

Linked Data

dbSNP Id: rs2122334992
MyVariant Identifiers: chr19:g.52715993C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.52212740C>T , CM000681.2:g.52212740C>T GRCh38
NC_000019.9:g.52715993C>T , CM000681.1:g.52715993C>T GRCh37
NC_000019.8:g.57407805C>T NCBI36
NG_047068.1:g.27939C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000454220.7:c.678C>T ENSP00000391905.3:p.Ala226=
ENST00000703395.1:c.21C>T ENSP00000515286.1:p.Ala7=
ENST00000703396.1:n.502C>T
ENST00000703397.1:c.21C>T ENSP00000515287.1:p.Ala7=
ENST00000703398.1:c.600C>T ENSP00000515288.1:p.Ala200=
ENST00000703421.1:n.711C>T
ENST00000703422.1:c.534C>T ENSP00000515292.1:p.Ala178=
ENST00000703423.1:c.21C>T ENSP00000515293.1:p.Ala7=
ENST00000322088.11:c.558C>T MANE Select ENSP00000324804.6:p.Ala186=
ENST00000322088.10:c.558C>T ENSP00000324804.6:p.Ala186=
ENST00000454220.6:c.678C>T ENSP00000391905.2:p.Ala226=
ENST00000462047.1:n.249C>T
ENST00000462990.5:c.21C>T ENSP00000470504.1:p.Ala7=
NM_014225.5:c.558C>T NP_055040.2:p.Ala186=
NR_033500.1:n.752C>T
NM_001363656.1:c.21C>T NP_001350585.1:p.Ala7=
NM_014225.6:c.558C>T MANE Select NP_055040.2:p.Ala186=
NM_001363656.2:c.21C>T NP_001350585.1:p.Ala7=
NR_033500.2:n.502C>T