Canonical Allele Identifier: CA508826468
Gene: PPP2R1A HGNC NCBI

Linked Data

dbSNP Id: rs2122335505
MyVariant Identifiers: chr19:g.52716038C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.52212785C>G , CM000681.2:g.52212785C>G GRCh38
NC_000019.9:g.52716038C>G , CM000681.1:g.52716038C>G GRCh37
NC_000019.8:g.57407850C>G NCBI36
NG_047068.1:g.27984C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000454220.7:c.723C>G ENSP00000391905.3:p.Val241=
ENST00000703395.1:c.66C>G ENSP00000515286.1:p.Val22=
ENST00000703396.1:n.547C>G
ENST00000703397.1:c.66C>G ENSP00000515287.1:p.Val22=
ENST00000703398.1:c.645C>G ENSP00000515288.1:p.Val215=
ENST00000703421.1:n.756C>G
ENST00000703422.1:c.579C>G ENSP00000515292.1:p.Val193=
ENST00000703423.1:c.66C>G ENSP00000515293.1:p.Val22=
ENST00000322088.11:c.603C>G MANE Select ENSP00000324804.6:p.Val201=
ENST00000322088.10:c.603C>G ENSP00000324804.6:p.Val201=
ENST00000454220.6:c.723C>G ENSP00000391905.2:p.Val241=
ENST00000462047.1:n.294C>G
ENST00000462990.5:c.66C>G ENSP00000470504.1:p.Val22=
NM_014225.5:c.603C>G NP_055040.2:p.Val201=
NR_033500.1:n.797C>G
NM_001363656.1:c.66C>G NP_001350585.1:p.Val22=
NM_014225.6:c.603C>G MANE Select NP_055040.2:p.Val201=
NM_001363656.2:c.66C>G NP_001350585.1:p.Val22=
NR_033500.2:n.547C>G