Canonical Allele Identifier: CA2586787403

Gene: PPP2R1A

Linked Data

• gnomAD v4: 19-52212680-T-TCC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52212682_52212683dup , CM000681.2:g.52212682_52212683dup	GRCh38
NC_000019.9:g.52715935_52715936dup , CM000681.1:g.52715935_52715936dup	GRCh37
NC_000019.8:g.57407747_57407748dup	NCBI36
NG_047068.1:g.27881_27882dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454220.7:c.624-4_624-3dup	ENSP00000391905.3:n.624-4_624-3dup
ENST00000703395.1:c.-34-4_-34-3dup	ENSP00000515286.1:n.-34-4_-34-3dup
ENST00000703396.1:n.448-4_448-3dup
ENST00000703397.1:c.-34-4_-34-3dup	ENSP00000515287.1:n.-34-4_-34-3dup
ENST00000703398.1:c.546-4_546-3dup	ENSP00000515288.1:n.546-4_546-3dup
ENST00000703421.1:n.657-4_657-3dup
ENST00000703422.1:c.480-4_480-3dup	ENSP00000515292.1:n.480-4_480-3dup
ENST00000703423.1:c.-34-4_-34-3dup	ENSP00000515293.1:n.-34-4_-34-3dup
ENST00000322088.11:c.504-4_504-3dup MANE Select	ENSP00000324804.6:n.504-4_504-3dup
ENST00000322088.10:c.504-4_504-3dup	ENSP00000324804.6:n.504-4_504-3dup
ENST00000454220.6:c.624-4_624-3dup	ENSP00000391905.2:n.624-4_624-3dup
ENST00000462047.1:n.191_192dup
ENST00000462990.5:c.-34-4_-34-3dup	ENSP00000470504.1:n.-34-4_-34-3dup
ENST00000473455.2:n.603-4_603-3dup
NM_014225.5:c.504-4_504-3dup	NP_055040.2:n.504-4_504-3dup
NR_033500.1:n.698-4_698-3dup
NM_001363656.1:c.-34-4_-34-3dup	NP_001350585.1:n.-34-4_-34-3dup
NM_014225.6:c.504-4_504-3dup MANE Select	NP_055040.2:n.504-4_504-3dup
NM_001363656.2:c.-34-4_-34-3dup	NP_001350585.1:n.-34-4_-34-3dup
NR_033500.2:n.448-4_448-3dup