Canonical Allele Identifier: CA407184072

Gene: PPP2R1A

Linked Data

• dbSNP Id: rs757523472
• MyVariant Identifiers: chr19:g.52716069C>G (hg19) ; chr19:g.52212816C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52212816C>G , CM000681.2:g.52212816C>G	GRCh38
NC_000019.9:g.52716069C>G , CM000681.1:g.52716069C>G	GRCh37
NC_000019.8:g.57407881C>G	NCBI36
NG_047068.1:g.28015C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454220.7:c.754C>G	ENSP00000391905.3:p.Leu252Val
ENST00000703395.1:c.97C>G	ENSP00000515286.1:p.Leu33Val
ENST00000703396.1:n.578C>G
ENST00000703397.1:c.97C>G	ENSP00000515287.1:p.Leu33Val
ENST00000703398.1:c.676C>G	ENSP00000515288.1:p.Leu226Val
ENST00000703421.1:n.787C>G
ENST00000703422.1:c.610C>G	ENSP00000515292.1:p.Leu204Val
ENST00000703423.1:c.97C>G	ENSP00000515293.1:p.Leu33Val
ENST00000322088.11:c.634C>G MANE Select	ENSP00000324804.6:p.Leu212Val
ENST00000322088.10:c.634C>G	ENSP00000324804.6:p.Leu212Val
ENST00000454220.6:c.754C>G	ENSP00000391905.2:p.Leu252Val
ENST00000462047.1:n.325C>G
ENST00000462990.5:c.97C>G	ENSP00000470504.1:p.Leu33Val
NM_014225.5:c.634C>G	NP_055040.2:p.Leu212Val
NR_033500.1:n.828C>G
NM_001363656.1:c.97C>G	NP_001350585.1:p.Leu33Val
NM_014225.6:c.634C>G MANE Select	NP_055040.2:p.Leu212Val
NM_001363656.2:c.97C>G	NP_001350585.1:p.Leu33Val
NR_033500.2:n.578C>G