Canonical Allele Identifier: CA407183417

Gene: PPP2R1A

Linked Data

• dbSNP Id: rs1339888877
• COSMIC: COSM1000442
• MyVariant Identifiers: chr19:g.52715952C>A (hg19) ; chr19:g.52212699C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52212699C>A , CM000681.2:g.52212699C>A	GRCh38
NC_000019.9:g.52715952C>A , CM000681.1:g.52715952C>A	GRCh37
NC_000019.8:g.57407764C>A	NCBI36
NG_047068.1:g.27898C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454220.7:c.637C>A	ENSP00000391905.3:p.Leu213Met
ENST00000703395.1:c.-21C>A	ENSP00000515286.1:n.-21C>A
ENST00000703396.1:n.461C>A
ENST00000703397.1:c.-21C>A	ENSP00000515287.1:n.-21C>A
ENST00000703398.1:c.559C>A	ENSP00000515288.1:p.Leu187Met
ENST00000703421.1:n.670C>A
ENST00000703422.1:c.493C>A	ENSP00000515292.1:p.Leu165Met
ENST00000703423.1:c.-21C>A	ENSP00000515293.1:n.-21C>A
ENST00000322088.11:c.517C>A MANE Select	ENSP00000324804.6:p.Leu173Met
ENST00000322088.10:c.517C>A	ENSP00000324804.6:p.Leu173Met
ENST00000454220.6:c.637C>A	ENSP00000391905.2:p.Leu213Met
ENST00000462047.1:n.208C>A
ENST00000462990.5:c.-21C>A	ENSP00000470504.1:n.-21C>A
NM_014225.5:c.517C>A	NP_055040.2:p.Leu173Met
NR_033500.1:n.711C>A
NM_001363656.1:c.-21C>A	NP_001350585.1:n.-21C>A
NM_014225.6:c.517C>A MANE Select	NP_055040.2:p.Leu173Met
NM_001363656.2:c.-21C>A	NP_001350585.1:n.-21C>A
NR_033500.2:n.461C>A