Canonical Allele Identifier: CA9621221

Gene: PPP2R1A

Linked Data

• ClinVar Variation Id: 1170866
• ClinVar RCV Id: RCV001523606
• dbSNP Id: rs201099965
• ExAC: 19:52693438 T / C
• gnomAD v2: 19-52693438-T-C
• gnomAD v3: 19-52190185-T-C
• gnomAD v4: 19-52190185-T-C
• MyVariant Identifiers: chr19:g.52693438T>C (hg19) ; chr19:g.52190185T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52190185T>C , CM000681.2:g.52190185T>C	GRCh38
NC_000019.9:g.52693438T>C , CM000681.1:g.52693438T>C	GRCh37
NC_000019.8:g.57385250T>C	NCBI36
NG_047068.1:g.5384T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454220.7:c.89T>C	ENSP00000391905.3:p.Leu30Pro
ENST00000703395.1:c.-459-11759T>C	ENSP00000515286.1:n.-459-11759T>C
ENST00000703396.1:n.123+11T>C
ENST00000703397.1:c.-657+11T>C	ENSP00000515287.1:n.-657+11T>C
ENST00000703398.1:c.78+11T>C	ENSP00000515288.1:n.78+11T>C
ENST00000703421.1:n.231+1029T>C
ENST00000703422.1:c.78+11T>C	ENSP00000515292.1:n.78+11T>C
ENST00000322088.11:c.78+11T>C MANE Select	ENSP00000324804.6:n.78+11T>C
ENST00000322088.10:c.78+11T>C	ENSP00000324804.6:n.78+11T>C
ENST00000454220.6:c.89T>C	ENSP00000391905.2:p.Leu30Pro
ENST00000468280.5:n.61+11T>C
ENST00000477989.1:c.78+11T>C	ENSP00000471298.1:n.78+11T>C
ENST00000490868.5:c.78+11T>C	ENSP00000469150.1:n.78+11T>C
ENST00000628959.1:c.78+11T>C	ENSP00000485914.1:n.78+11T>C
NM_014225.5:c.78+11T>C	NP_055040.2:n.78+11T>C
NR_033500.1:n.373+11T>C
NM_014225.6:c.78+11T>C MANE Select	NP_055040.2:n.78+11T>C
NR_033500.2:n.123+11T>C