Canonical Allele Identifier: CA2586787353

Gene: PPP2R1A

Linked Data

• gnomAD v4: 19-52212603-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52212603G>T , CM000681.2:g.52212603G>T	GRCh38
NC_000019.9:g.52715856G>T , CM000681.1:g.52715856G>T	GRCh37
NC_000019.8:g.57407668G>T	NCBI36
NG_047068.1:g.27802G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454220.7:c.624-83G>T	ENSP00000391905.3:n.624-83G>T
ENST00000703395.1:c.-34-83G>T	ENSP00000515286.1:n.-34-83G>T
ENST00000703396.1:n.448-83G>T
ENST00000703397.1:c.-34-83G>T	ENSP00000515287.1:n.-34-83G>T
ENST00000703398.1:c.546-83G>T	ENSP00000515288.1:n.546-83G>T
ENST00000703421.1:n.657-83G>T
ENST00000703422.1:c.480-83G>T	ENSP00000515292.1:n.480-83G>T
ENST00000703423.1:c.-34-83G>T	ENSP00000515293.1:n.-34-83G>T
ENST00000322088.11:c.504-83G>T MANE Select	ENSP00000324804.6:n.504-83G>T
ENST00000322088.10:c.504-83G>T	ENSP00000324804.6:n.504-83G>T
ENST00000454220.6:c.624-83G>T	ENSP00000391905.2:n.624-83G>T
ENST00000462047.1:n.112G>T
ENST00000462990.5:c.-34-83G>T	ENSP00000470504.1:n.-34-83G>T
ENST00000473455.2:n.603-83G>T
NM_014225.5:c.504-83G>T	NP_055040.2:n.504-83G>T
NR_033500.1:n.698-83G>T
NM_001363656.1:c.-34-83G>T	NP_001350585.1:n.-34-83G>T
NM_014225.6:c.504-83G>T MANE Select	NP_055040.2:n.504-83G>T
NM_001363656.2:c.-34-83G>T	NP_001350585.1:n.-34-83G>T
NR_033500.2:n.448-83G>T