Canonical Allele Identifier: CA883340761

Gene: PPP2R1A

Linked Data

• ClinVar Variation Id: 1939373
• ClinVar RCV Id: RCV002666772
• dbSNP Id: rs1185729932
• MyVariant Identifiers: chr19:g.52715920del (hg19) ; chr19:g.52212667del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52212670del , CM000681.2:g.52212670del	GRCh38
NC_000019.9:g.52715923del , CM000681.1:g.52715923del	GRCh37
NC_000019.8:g.57407735del	NCBI36
NG_047068.1:g.27869del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454220.7:c.624-16del	ENSP00000391905.3:n.624-16del
ENST00000703395.1:c.-34-16del	ENSP00000515286.1:n.-34-16del
ENST00000703396.1:n.448-16del
ENST00000703397.1:c.-34-16del	ENSP00000515287.1:n.-34-16del
ENST00000703398.1:c.546-16del	ENSP00000515288.1:n.546-16del
ENST00000703421.1:n.657-16del
ENST00000703422.1:c.480-16del	ENSP00000515292.1:n.480-16del
ENST00000703423.1:c.-34-16del	ENSP00000515293.1:n.-34-16del
ENST00000322088.11:c.504-16del MANE Select	ENSP00000324804.6:n.504-16del
ENST00000322088.10:c.504-16del	ENSP00000324804.6:n.504-16del
ENST00000454220.6:c.624-16del	ENSP00000391905.2:n.624-16del
ENST00000462047.1:n.179del
ENST00000462990.5:c.-34-16del	ENSP00000470504.1:n.-34-16del
ENST00000473455.2:n.603-16del
NM_014225.5:c.504-16del	NP_055040.2:n.504-16del
NR_033500.1:n.698-16del
NM_001363656.1:c.-34-16del	NP_001350585.1:n.-34-16del
NM_014225.6:c.504-16del MANE Select	NP_055040.2:n.504-16del
NM_001363656.2:c.-34-16del	NP_001350585.1:n.-34-16del
NR_033500.2:n.448-16del