Canonical Allele Identifier: CA407183449

Gene: PPP2R1A

Linked Data

• dbSNP Id: rs2122334436
• MyVariant Identifiers: chr19:g.52715958T>C (hg19) ; chr19:g.52212705T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52212705T>C , CM000681.2:g.52212705T>C	GRCh38
NC_000019.9:g.52715958T>C , CM000681.1:g.52715958T>C	GRCh37
NC_000019.8:g.57407770T>C	NCBI36
NG_047068.1:g.27904T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454220.7:c.643T>C	ENSP00000391905.3:p.Ser215Pro
ENST00000703395.1:c.-15T>C	ENSP00000515286.1:n.-15T>C
ENST00000703396.1:n.467T>C
ENST00000703397.1:c.-15T>C	ENSP00000515287.1:n.-15T>C
ENST00000703398.1:c.565T>C	ENSP00000515288.1:p.Ser189Pro
ENST00000703421.1:n.676T>C
ENST00000703422.1:c.499T>C	ENSP00000515292.1:p.Ser167Pro
ENST00000703423.1:c.-15T>C	ENSP00000515293.1:n.-15T>C
ENST00000322088.11:c.523T>C MANE Select	ENSP00000324804.6:p.Ser175Pro
ENST00000322088.10:c.523T>C	ENSP00000324804.6:p.Ser175Pro
ENST00000454220.6:c.643T>C	ENSP00000391905.2:p.Ser215Pro
ENST00000462047.1:n.214T>C
ENST00000462990.5:c.-15T>C	ENSP00000470504.1:n.-15T>C
NM_014225.5:c.523T>C	NP_055040.2:p.Ser175Pro
NR_033500.1:n.717T>C
NM_001363656.1:c.-15T>C	NP_001350585.1:n.-15T>C
NM_014225.6:c.523T>C MANE Select	NP_055040.2:p.Ser175Pro
NM_001363656.2:c.-15T>C	NP_001350585.1:n.-15T>C
NR_033500.2:n.467T>C