Canonical Allele Identifier: CA156470

Gene: PPP2R1A

Linked Data

• ClinVar Variation Id: 133379
• ClinVar RCV Id: RCV000119880
• dbSNP Id: rs41275796
• ExAC: 19:52693540 C / T
• gnomAD v2: 19-52693540-C-T
• gnomAD v3: 19-52190287-C-T
• gnomAD v4: 19-52190287-C-T
• MyVariant Identifiers: chr19:g.52693540C>T (hg19) ; chr19:g.52190287C>T (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52190287C>T , CM000681.2:g.52190287C>T	GRCh38
NC_000019.9:g.52693540C>T , CM000681.1:g.52693540C>T	GRCh37
NC_000019.8:g.57385352C>T	NCBI36
NG_047068.1:g.5486C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454220.7:c.191C>T	ENSP00000391905.3:p.Pro64Leu
ENST00000703395.1:c.-459-11657C>T	ENSP00000515286.1:n.-459-11657C>T
ENST00000703396.1:n.123+113C>T
ENST00000703397.1:c.-657+113C>T	ENSP00000515287.1:n.-657+113C>T
ENST00000703398.1:c.78+113C>T	ENSP00000515288.1:n.78+113C>T
ENST00000703421.1:n.231+1131C>T
ENST00000703422.1:c.78+113C>T	ENSP00000515292.1:n.78+113C>T
ENST00000322088.11:c.78+113C>T MANE Select	ENSP00000324804.6:n.78+113C>T
ENST00000322088.10:c.78+113C>T	ENSP00000324804.6:n.78+113C>T
ENST00000454220.6:c.191C>T	ENSP00000391905.2:p.Pro64Leu
ENST00000468280.5:n.61+113C>T
ENST00000477989.1:c.78+113C>T	ENSP00000471298.1:n.78+113C>T
ENST00000490868.5:c.78+113C>T	ENSP00000469150.1:n.78+113C>T
ENST00000628959.1:c.78+113C>T	ENSP00000485914.1:n.78+113C>T
NM_014225.5:c.78+113C>T	NP_055040.2:n.78+113C>T
NR_033500.1:n.373+113C>T
NM_014225.6:c.78+113C>T MANE Select	NP_055040.2:n.78+113C>T
NR_033500.2:n.123+113C>T