Canonical Allele Identifier: CA9621371

Gene: PPP2R1A

Linked Data

• ClinVar Variation Id: 2801287
• ClinVar RCV Id: RCV003674030
• dbSNP Id: rs768304617
• ExAC: 19:52716021 C / T
• gnomAD v2: 19-52716021-C-T
• gnomAD v3: 19-52212768-C-T
• gnomAD v4: 19-52212768-C-T
• MyVariant Identifiers: chr19:g.52716021C>T (hg19) ; chr19:g.52212768C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52212768C>T , CM000681.2:g.52212768C>T	GRCh38
NC_000019.9:g.52716021C>T , CM000681.1:g.52716021C>T	GRCh37
NC_000019.8:g.57407833C>T	NCBI36
NG_047068.1:g.27967C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454220.7:c.706C>T	ENSP00000391905.3:p.Leu236=
ENST00000703395.1:c.49C>T	ENSP00000515286.1:p.Leu17=
ENST00000703396.1:n.530C>T
ENST00000703397.1:c.49C>T	ENSP00000515287.1:p.Leu17=
ENST00000703398.1:c.628C>T	ENSP00000515288.1:p.Leu210=
ENST00000703421.1:n.739C>T
ENST00000703422.1:c.562C>T	ENSP00000515292.1:p.Leu188=
ENST00000703423.1:c.49C>T	ENSP00000515293.1:p.Leu17=
ENST00000322088.11:c.586C>T MANE Select	ENSP00000324804.6:p.Leu196=
ENST00000322088.10:c.586C>T	ENSP00000324804.6:p.Leu196=
ENST00000454220.6:c.706C>T	ENSP00000391905.2:p.Leu236=
ENST00000462047.1:n.277C>T
ENST00000462990.5:c.49C>T	ENSP00000470504.1:p.Leu17=
NM_014225.5:c.586C>T	NP_055040.2:p.Leu196=
NR_033500.1:n.780C>T
NM_001363656.1:c.49C>T	NP_001350585.1:p.Leu17=
NM_014225.6:c.586C>T MANE Select	NP_055040.2:p.Leu196=
NM_001363656.2:c.49C>T	NP_001350585.1:p.Leu17=
NR_033500.2:n.530C>T