Canonical Allele Identifier: CA407183422

Gene: PPP2R1A

Linked Data

• dbSNP Id: rs2122334357
• MyVariant Identifiers: chr19:g.52715953T>C (hg19) ; chr19:g.52212700T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52212700T>C , CM000681.2:g.52212700T>C	GRCh38
NC_000019.9:g.52715953T>C , CM000681.1:g.52715953T>C	GRCh37
NC_000019.8:g.57407765T>C	NCBI36
NG_047068.1:g.27899T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454220.7:c.638T>C	ENSP00000391905.3:p.Leu213Pro
ENST00000703395.1:c.-20T>C	ENSP00000515286.1:n.-20T>C
ENST00000703396.1:n.462T>C
ENST00000703397.1:c.-20T>C	ENSP00000515287.1:n.-20T>C
ENST00000703398.1:c.560T>C	ENSP00000515288.1:p.Leu187Pro
ENST00000703421.1:n.671T>C
ENST00000703422.1:c.494T>C	ENSP00000515292.1:p.Leu165Pro
ENST00000703423.1:c.-20T>C	ENSP00000515293.1:n.-20T>C
ENST00000322088.11:c.518T>C MANE Select	ENSP00000324804.6:p.Leu173Pro
ENST00000322088.10:c.518T>C	ENSP00000324804.6:p.Leu173Pro
ENST00000454220.6:c.638T>C	ENSP00000391905.2:p.Leu213Pro
ENST00000462047.1:n.209T>C
ENST00000462990.5:c.-20T>C	ENSP00000470504.1:n.-20T>C
NM_014225.5:c.518T>C	NP_055040.2:p.Leu173Pro
NR_033500.1:n.712T>C
NM_001363656.1:c.-20T>C	NP_001350585.1:n.-20T>C
NM_014225.6:c.518T>C MANE Select	NP_055040.2:p.Leu173Pro
NM_001363656.2:c.-20T>C	NP_001350585.1:n.-20T>C
NR_033500.2:n.462T>C