Canonical Allele Identifier: CA9621368

Gene: PPP2R1A

Linked Data

• ClinVar Variation Id: 2190704
• ClinVar RCV Id: RCV002628203
• dbSNP Id: rs772009912
• ExAC: 19:52715987 C / T
• gnomAD v2: 19-52715987-C-T
• gnomAD v3: 19-52212734-C-T
• gnomAD v4: 19-52212734-C-T
• COSMIC: COSM1262884
• MyVariant Identifiers: chr19:g.52715987C>T (hg19) ; chr19:g.52212734C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52212734C>T , CM000681.2:g.52212734C>T	GRCh38
NC_000019.9:g.52715987C>T , CM000681.1:g.52715987C>T	GRCh37
NC_000019.8:g.57407799C>T	NCBI36
NG_047068.1:g.27933C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000454220.7:c.672C>T	ENSP00000391905.3:p.Ala224=
ENST00000703395.1:c.15C>T	ENSP00000515286.1:p.Ala5=
ENST00000703396.1:n.496C>T
ENST00000703397.1:c.15C>T	ENSP00000515287.1:p.Ala5=
ENST00000703398.1:c.594C>T	ENSP00000515288.1:p.Ala198=
ENST00000703421.1:n.705C>T
ENST00000703422.1:c.528C>T	ENSP00000515292.1:p.Ala176=
ENST00000703423.1:c.15C>T	ENSP00000515293.1:p.Ala5=
ENST00000322088.11:c.552C>T MANE Select	ENSP00000324804.6:p.Ala184=
ENST00000322088.10:c.552C>T	ENSP00000324804.6:p.Ala184=
ENST00000454220.6:c.672C>T	ENSP00000391905.2:p.Ala224=
ENST00000462047.1:n.243C>T
ENST00000462990.5:c.15C>T	ENSP00000470504.1:p.Ala5=
NM_014225.5:c.552C>T	NP_055040.2:p.Ala184=
NR_033500.1:n.746C>T
NM_001363656.1:c.15C>T	NP_001350585.1:p.Ala5=
NM_014225.6:c.552C>T MANE Select	NP_055040.2:p.Ala184=
NM_001363656.2:c.15C>T	NP_001350585.1:p.Ala5=
NR_033500.2:n.496C>T