Canonical Allele Identifier: CA199662

Gene: PPP2R1A

Linked Data

• ClinVar Variation Id: 190312
• ClinVar RCV Id: RCV000170500 ; RCV000412854
• dbSNP Id: rs786205227
• COSMIC: COSM51212
• MyVariant Identifiers: chr19:g.52715979C>T (hg19) ; chr19:g.52212726C>T (hg38)
• PubMed: PMID:25533962 ; PMID:26168268 ; PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52212726C>T , CM000681.2:g.52212726C>T	GRCh38
NC_000019.9:g.52715979C>T , CM000681.1:g.52715979C>T	GRCh37
NC_000019.8:g.57407791C>T	NCBI36
NG_047068.1:g.27925C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000454220.7:c.664C>T	ENSP00000391905.3:p.Arg222Trp
ENST00000703395.1:c.7C>T	ENSP00000515286.1:p.Arg3Trp
ENST00000703396.1:n.488C>T
ENST00000703397.1:c.7C>T	ENSP00000515287.1:p.Arg3Trp
ENST00000703398.1:c.586C>T	ENSP00000515288.1:p.Arg196Trp
ENST00000703421.1:n.697C>T
ENST00000703422.1:c.520C>T	ENSP00000515292.1:p.Arg174Trp
ENST00000703423.1:c.7C>T	ENSP00000515293.1:p.Arg3Trp
ENST00000322088.11:c.544C>T MANE Select	ENSP00000324804.6:p.Arg182Trp
ENST00000322088.10:c.544C>T	ENSP00000324804.6:p.Arg182Trp
ENST00000454220.6:c.664C>T	ENSP00000391905.2:p.Arg222Trp
ENST00000462047.1:n.235C>T
ENST00000462990.5:c.7C>T	ENSP00000470504.1:p.Arg3Trp
NM_014225.5:c.544C>T	NP_055040.2:p.Arg182Trp
NR_033500.1:n.738C>T
NM_001363656.1:c.7C>T	NP_001350585.1:p.Arg3Trp
NM_014225.6:c.544C>T MANE Select	NP_055040.2:p.Arg182Trp
NM_001363656.2:c.7C>T	NP_001350585.1:p.Arg3Trp
NR_033500.2:n.488C>T