Canonical Allele Identifier: CA407183926

Gene: PPP2R1A

Linked Data

• dbSNP Id: rs756612403
• gnomAD v4: 19-52212791-T-G
• MyVariant Identifiers: chr19:g.52716044T>G (hg19) ; chr19:g.52212791T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52212791T>G , CM000681.2:g.52212791T>G	GRCh38
NC_000019.9:g.52716044T>G , CM000681.1:g.52716044T>G	GRCh37
NC_000019.8:g.57407856T>G	NCBI36
NG_047068.1:g.27990T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454220.7:c.729T>G	ENSP00000391905.3:p.Ser243Arg
ENST00000703395.1:c.72T>G	ENSP00000515286.1:p.Ser24Arg
ENST00000703396.1:n.553T>G
ENST00000703397.1:c.72T>G	ENSP00000515287.1:p.Ser24Arg
ENST00000703398.1:c.651T>G	ENSP00000515288.1:p.Ser217Arg
ENST00000703421.1:n.762T>G
ENST00000703422.1:c.585T>G	ENSP00000515292.1:p.Ser195Arg
ENST00000703423.1:c.72T>G	ENSP00000515293.1:p.Ser24Arg
ENST00000322088.11:c.609T>G MANE Select	ENSP00000324804.6:p.Ser203Arg
ENST00000322088.10:c.609T>G	ENSP00000324804.6:p.Ser203Arg
ENST00000454220.6:c.729T>G	ENSP00000391905.2:p.Ser243Arg
ENST00000462047.1:n.300T>G
ENST00000462990.5:c.72T>G	ENSP00000470504.1:p.Ser24Arg
NM_014225.5:c.609T>G	NP_055040.2:p.Ser203Arg
NR_033500.1:n.803T>G
NM_001363656.1:c.72T>G	NP_001350585.1:p.Ser24Arg
NM_014225.6:c.609T>G MANE Select	NP_055040.2:p.Ser203Arg
NM_001363656.2:c.72T>G	NP_001350585.1:p.Ser24Arg
NR_033500.2:n.553T>G