Canonical Allele Identifier: CA407183425

Gene: PPP2R1A

Linked Data

• MyVariant Identifiers: chr19:g.52715953T>G (hg19) ; chr19:g.52212700T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454220.7:c.638T>G	ENSP00000391905.3:p.Leu213Arg
ENST00000703395.1:c.-20T>G	ENSP00000515286.1:n.-20T>G
ENST00000703396.1:n.462T>G
ENST00000703397.1:c.-20T>G	ENSP00000515287.1:n.-20T>G
ENST00000703398.1:c.560T>G	ENSP00000515288.1:p.Leu187Arg
ENST00000703421.1:n.671T>G
ENST00000703422.1:c.494T>G	ENSP00000515292.1:p.Leu165Arg
ENST00000703423.1:c.-20T>G	ENSP00000515293.1:n.-20T>G
ENST00000322088.11:c.518T>G MANE Select	ENSP00000324804.6:p.Leu173Arg
ENST00000322088.10:c.518T>G	ENSP00000324804.6:p.Leu173Arg
ENST00000454220.6:c.638T>G	ENSP00000391905.2:p.Leu213Arg
ENST00000462047.1:n.209T>G
ENST00000462990.5:c.-20T>G	ENSP00000470504.1:n.-20T>G
NM_014225.5:c.518T>G	NP_055040.2:p.Leu173Arg
NR_033500.1:n.712T>G
NM_001363656.1:c.-20T>G	NP_001350585.1:n.-20T>G
NM_014225.6:c.518T>G MANE Select	NP_055040.2:p.Leu173Arg
NM_001363656.2:c.-20T>G	NP_001350585.1:n.-20T>G
NR_033500.2:n.462T>G