Canonical Allele Identifier: CA9621372

Gene: PPP2R1A

Linked Data

• dbSNP Id: rs776319121
• ExAC: 19:52716026 G / A
• gnomAD v2: 19-52716026-G-A
• gnomAD v4: 19-52212773-G-A
• MyVariant Identifiers: chr19:g.52716026G>A (hg19) ; chr19:g.52212773G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52212773G>A , CM000681.2:g.52212773G>A	GRCh38
NC_000019.9:g.52716026G>A , CM000681.1:g.52716026G>A	GRCh37
NC_000019.8:g.57407838G>A	NCBI36
NG_047068.1:g.27972G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454220.7:c.711G>A	ENSP00000391905.3:p.Glu237=
ENST00000703395.1:c.54G>A	ENSP00000515286.1:p.Glu18=
ENST00000703396.1:n.535G>A
ENST00000703397.1:c.54G>A	ENSP00000515287.1:p.Glu18=
ENST00000703398.1:c.633G>A	ENSP00000515288.1:p.Glu211=
ENST00000703421.1:n.744G>A
ENST00000703422.1:c.567G>A	ENSP00000515292.1:p.Glu189=
ENST00000703423.1:c.54G>A	ENSP00000515293.1:p.Glu18=
ENST00000322088.11:c.591G>A MANE Select	ENSP00000324804.6:p.Glu197=
ENST00000322088.10:c.591G>A	ENSP00000324804.6:p.Glu197=
ENST00000454220.6:c.711G>A	ENSP00000391905.2:p.Glu237=
ENST00000462047.1:n.282G>A
ENST00000462990.5:c.54G>A	ENSP00000470504.1:p.Glu18=
NM_014225.5:c.591G>A	NP_055040.2:p.Glu197=
NR_033500.1:n.785G>A
NM_001363656.1:c.54G>A	NP_001350585.1:p.Glu18=
NM_014225.6:c.591G>A MANE Select	NP_055040.2:p.Glu197=
NM_001363656.2:c.54G>A	NP_001350585.1:p.Glu18=
NR_033500.2:n.535G>A