Canonical Allele Identifier: CA9621359

Gene: PPP2R1A

Linked Data

• dbSNP Id: rs373544187
• ExAC: 19:52715898 A / G
• gnomAD v2: 19-52715898-A-G
• gnomAD v3: 19-52212645-A-G
• gnomAD v4: 19-52212645-A-G
• MyVariant Identifiers: chr19:g.52715898A>G (hg19) ; chr19:g.52212645A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52212645A>G , CM000681.2:g.52212645A>G	GRCh38
NC_000019.9:g.52715898A>G , CM000681.1:g.52715898A>G	GRCh37
NC_000019.8:g.57407710A>G	NCBI36
NG_047068.1:g.27844A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454220.7:c.624-41A>G	ENSP00000391905.3:n.624-41A>G
ENST00000703395.1:c.-34-41A>G	ENSP00000515286.1:n.-34-41A>G
ENST00000703396.1:n.448-41A>G
ENST00000703397.1:c.-34-41A>G	ENSP00000515287.1:n.-34-41A>G
ENST00000703398.1:c.546-41A>G	ENSP00000515288.1:n.546-41A>G
ENST00000703421.1:n.657-41A>G
ENST00000703422.1:c.480-41A>G	ENSP00000515292.1:n.480-41A>G
ENST00000703423.1:c.-34-41A>G	ENSP00000515293.1:n.-34-41A>G
ENST00000322088.11:c.504-41A>G MANE Select	ENSP00000324804.6:n.504-41A>G
ENST00000322088.10:c.504-41A>G	ENSP00000324804.6:n.504-41A>G
ENST00000454220.6:c.624-41A>G	ENSP00000391905.2:n.624-41A>G
ENST00000462047.1:n.154A>G
ENST00000462990.5:c.-34-41A>G	ENSP00000470504.1:n.-34-41A>G
ENST00000473455.2:n.603-41A>G
NM_014225.5:c.504-41A>G	NP_055040.2:n.504-41A>G
NR_033500.1:n.698-41A>G
NM_001363656.1:c.-34-41A>G	NP_001350585.1:n.-34-41A>G
NM_014225.6:c.504-41A>G MANE Select	NP_055040.2:n.504-41A>G
NM_001363656.2:c.-34-41A>G	NP_001350585.1:n.-34-41A>G
NR_033500.2:n.448-41A>G