Canonical Allele Identifier: CA2586785209

Gene: PPP2R1A

Linked Data

• gnomAD v4: 19-52190252-A-AGCGTTCGCTGGGAGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52190256_52190271dup , CM000681.2:g.52190256_52190271dup	GRCh38
NC_000019.9:g.52693509_52693524dup , CM000681.1:g.52693509_52693524dup	GRCh37
NC_000019.8:g.57385321_57385336dup	NCBI36
NG_047068.1:g.5455_5470dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454220.7:c.160_175dup	ENSP00000391905.3:p.Gly59ValfsTer32
ENST00000703395.1:c.-459-11688_-459-11673dup	ENSP00000515286.1:n.-459-11688_-459-11673dup
ENST00000703396.1:n.123+82_123+97dup
ENST00000703397.1:c.-657+82_-657+97dup	ENSP00000515287.1:n.-657+82_-657+97dup
ENST00000703398.1:c.78+82_78+97dup	ENSP00000515288.1:n.78+82_78+97dup
ENST00000703421.1:n.231+1100_231+1115dup
ENST00000703422.1:c.78+82_78+97dup	ENSP00000515292.1:n.78+82_78+97dup
ENST00000322088.11:c.78+82_78+97dup MANE Select	ENSP00000324804.6:n.78+82_78+97dup
ENST00000322088.10:c.78+82_78+97dup	ENSP00000324804.6:n.78+82_78+97dup
ENST00000454220.6:c.160_175dup	ENSP00000391905.2:p.Gly59ValfsTer32
ENST00000468280.5:n.61+82_61+97dup
ENST00000477989.1:c.78+82_78+97dup	ENSP00000471298.1:n.78+82_78+97dup
ENST00000490868.5:c.78+82_78+97dup	ENSP00000469150.1:n.78+82_78+97dup
ENST00000628959.1:c.78+82_78+97dup	ENSP00000485914.1:n.78+82_78+97dup
NM_014225.5:c.78+82_78+97dup	NP_055040.2:n.78+82_78+97dup
NR_033500.1:n.373+82_373+97dup
NM_014225.6:c.78+82_78+97dup MANE Select	NP_055040.2:n.78+82_78+97dup
NR_033500.2:n.123+82_123+97dup