Canonical Allele Identifier: CA9621384

Gene: PPP2R1A

Linked Data

• ClinVar Variation Id: 1661203
• ClinVar RCV Id: RCV002176508
• dbSNP Id: rs150469675
• ExAC: 19:52716080 C / T
• gnomAD v2: 19-52716080-C-T
• gnomAD v3: 19-52212827-C-T
• gnomAD v4: 19-52212827-C-T
• MyVariant Identifiers: chr19:g.52716080C>T (hg19) ; chr19:g.52212827C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52212827C>T , CM000681.2:g.52212827C>T	GRCh38
NC_000019.9:g.52716080C>T , CM000681.1:g.52716080C>T	GRCh37
NC_000019.8:g.57407892C>T	NCBI36
NG_047068.1:g.28026C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454220.7:c.765C>T	ENSP00000391905.3:p.Asp255=
ENST00000703395.1:c.108C>T	ENSP00000515286.1:p.Asp36=
ENST00000703396.1:n.589C>T
ENST00000703397.1:c.108C>T	ENSP00000515287.1:p.Asp36=
ENST00000703398.1:c.687C>T	ENSP00000515288.1:p.Asp229=
ENST00000703421.1:n.798C>T
ENST00000703422.1:c.621C>T	ENSP00000515292.1:p.Asp207=
ENST00000703423.1:c.108C>T	ENSP00000515293.1:p.Asp36=
ENST00000322088.11:c.645C>T MANE Select	ENSP00000324804.6:p.Asp215=
ENST00000322088.10:c.645C>T	ENSP00000324804.6:p.Asp215=
ENST00000454220.6:c.765C>T	ENSP00000391905.2:p.Asp255=
ENST00000462047.1:n.336C>T
ENST00000462990.5:c.108C>T	ENSP00000470504.1:p.Asp36=
NM_014225.5:c.645C>T	NP_055040.2:p.Asp215=
NR_033500.1:n.839C>T
NM_001363656.1:c.108C>T	NP_001350585.1:p.Asp36=
NM_014225.6:c.645C>T MANE Select	NP_055040.2:p.Asp215=
NM_001363656.2:c.108C>T	NP_001350585.1:p.Asp36=
NR_033500.2:n.589C>T