Canonical Allele Identifier: CA9621357

Gene: PPP2R1A

Linked Data

• dbSNP Id: rs562666352
• ExAC: 19:52715888 C / T
• gnomAD v2: 19-52715888-C-T
• gnomAD v3: 19-52212635-C-T
• gnomAD v4: 19-52212635-C-T
• MyVariant Identifiers: chr19:g.52715888C>T (hg19) ; chr19:g.52212635C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52212635C>T , CM000681.2:g.52212635C>T	GRCh38
NC_000019.9:g.52715888C>T , CM000681.1:g.52715888C>T	GRCh37
NC_000019.8:g.57407700C>T	NCBI36
NG_047068.1:g.27834C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000454220.7:c.624-51C>T	ENSP00000391905.3:n.624-51C>T
ENST00000703395.1:c.-34-51C>T	ENSP00000515286.1:n.-34-51C>T
ENST00000703396.1:n.448-51C>T
ENST00000703397.1:c.-34-51C>T	ENSP00000515287.1:n.-34-51C>T
ENST00000703398.1:c.546-51C>T	ENSP00000515288.1:n.546-51C>T
ENST00000703421.1:n.657-51C>T
ENST00000703422.1:c.480-51C>T	ENSP00000515292.1:n.480-51C>T
ENST00000703423.1:c.-34-51C>T	ENSP00000515293.1:n.-34-51C>T
ENST00000322088.11:c.504-51C>T MANE Select	ENSP00000324804.6:n.504-51C>T
ENST00000322088.10:c.504-51C>T	ENSP00000324804.6:n.504-51C>T
ENST00000454220.6:c.624-51C>T	ENSP00000391905.2:n.624-51C>T
ENST00000462047.1:n.144C>T
ENST00000462990.5:c.-34-51C>T	ENSP00000470504.1:n.-34-51C>T
ENST00000473455.2:n.603-51C>T
NM_014225.5:c.504-51C>T	NP_055040.2:n.504-51C>T
NR_033500.1:n.698-51C>T
NM_001363656.1:c.-34-51C>T	NP_001350585.1:n.-34-51C>T
NM_014225.6:c.504-51C>T MANE Select	NP_055040.2:n.504-51C>T
NM_001363656.2:c.-34-51C>T	NP_001350585.1:n.-34-51C>T
NR_033500.2:n.448-51C>T