Canonical Allele Identifier: CA407183914

Gene: PPP2R1A

Linked Data

• ClinVar Variation Id: 1517838
• ClinVar RCV Id: RCV002041189
• dbSNP Id: rs372716916
• gnomAD v2: 19-52716042-A-G
• gnomAD v4: 19-52212789-A-G
• MyVariant Identifiers: chr19:g.52716042A>G (hg19) ; chr19:g.52212789A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52212789A>G , CM000681.2:g.52212789A>G	GRCh38
NC_000019.9:g.52716042A>G , CM000681.1:g.52716042A>G	GRCh37
NC_000019.8:g.57407854A>G	NCBI36
NG_047068.1:g.27988A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454220.7:c.727A>G	ENSP00000391905.3:p.Ser243Gly
ENST00000703395.1:c.70A>G	ENSP00000515286.1:p.Ser24Gly
ENST00000703396.1:n.551A>G
ENST00000703397.1:c.70A>G	ENSP00000515287.1:p.Ser24Gly
ENST00000703398.1:c.649A>G	ENSP00000515288.1:p.Ser217Gly
ENST00000703421.1:n.760A>G
ENST00000703422.1:c.583A>G	ENSP00000515292.1:p.Ser195Gly
ENST00000703423.1:c.70A>G	ENSP00000515293.1:p.Ser24Gly
ENST00000322088.11:c.607A>G MANE Select	ENSP00000324804.6:p.Ser203Gly
ENST00000322088.10:c.607A>G	ENSP00000324804.6:p.Ser203Gly
ENST00000454220.6:c.727A>G	ENSP00000391905.2:p.Ser243Gly
ENST00000462047.1:n.298A>G
ENST00000462990.5:c.70A>G	ENSP00000470504.1:p.Ser24Gly
NM_014225.5:c.607A>G	NP_055040.2:p.Ser203Gly
NR_033500.1:n.801A>G
NM_001363656.1:c.70A>G	NP_001350585.1:p.Ser24Gly
NM_014225.6:c.607A>G MANE Select	NP_055040.2:p.Ser203Gly
NM_001363656.2:c.70A>G	NP_001350585.1:p.Ser24Gly
NR_033500.2:n.551A>G