Canonical Allele Identifier: CA156469

Gene: PPP2R1A

Linked Data

• ClinVar Variation Id: 133378
• ClinVar RCV Id: RCV000119879
• dbSNP Id: rs114390941
• ExAC: 19:52693509 T / G
• gnomAD v2: 19-52693509-T-G
• gnomAD v3: 19-52190256-T-G
• gnomAD v4: 19-52190256-T-G
• MyVariant Identifiers: chr19:g.52693509T>G (hg19) ; chr19:g.52190256T>G (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52190256T>G , CM000681.2:g.52190256T>G	GRCh38
NC_000019.9:g.52693509T>G , CM000681.1:g.52693509T>G	GRCh37
NC_000019.8:g.57385321T>G	NCBI36
NG_047068.1:g.5455T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000454220.7:c.160T>G	ENSP00000391905.3:p.Phe54Val
ENST00000703395.1:c.-459-11688T>G	ENSP00000515286.1:n.-459-11688T>G
ENST00000703396.1:n.123+82T>G
ENST00000703397.1:c.-657+82T>G	ENSP00000515287.1:n.-657+82T>G
ENST00000703398.1:c.78+82T>G	ENSP00000515288.1:n.78+82T>G
ENST00000703421.1:n.231+1100T>G
ENST00000703422.1:c.78+82T>G	ENSP00000515292.1:n.78+82T>G
ENST00000322088.11:c.78+82T>G MANE Select	ENSP00000324804.6:n.78+82T>G
ENST00000322088.10:c.78+82T>G	ENSP00000324804.6:n.78+82T>G
ENST00000454220.6:c.160T>G	ENSP00000391905.2:p.Phe54Val
ENST00000468280.5:n.61+82T>G
ENST00000477989.1:c.78+82T>G	ENSP00000471298.1:n.78+82T>G
ENST00000490868.5:c.78+82T>G	ENSP00000469150.1:n.78+82T>G
ENST00000628959.1:c.78+82T>G	ENSP00000485914.1:n.78+82T>G
NM_014225.5:c.78+82T>G	NP_055040.2:n.78+82T>G
NR_033500.1:n.373+82T>G
NM_014225.6:c.78+82T>G MANE Select	NP_055040.2:n.78+82T>G
NR_033500.2:n.123+82T>G