Canonical Allele Identifier: CA425499575

Gene: PPP1CB

Linked Data

• ClinVar Variation Id: 1970804
• ClinVar RCV Id: RCV002760494
• dbSNP Id: rs1339330369
• gnomAD v2: 2-28999844-T-C
• gnomAD v3: 2-28776978-T-C
• gnomAD v4: 2-28776978-T-C
• MyVariant Identifiers: chr2:g.28999844T>C (hg19) ; chr2:g.28776978T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.28776978T>C , CM000664.2:g.28776978T>C	GRCh38
NC_000002.11:g.28999844T>C , CM000664.1:g.28999844T>C	GRCh37
NC_000002.10:g.28853348T>C	NCBI36
NG_052878.1:g.30231T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000418910.2:c.180T>C	ENSP00000388056.2:p.Ile60=
ENST00000420282.6:c.180T>C	ENSP00000398839.2:p.Ile60=
ENST00000427786.2:c.96T>C	ENSP00000394589.1:p.Ile32=
ENST00000441461.6:c.180T>C	ENSP00000414918.2:p.Ile60=
ENST00000455580.6:c.96T>C	ENSP00000390715.2:p.Ile32=
ENST00000703171.1:c.180T>C	ENSP00000515217.1:p.Ile60=
ENST00000703172.1:c.96T>C	ENSP00000515218.1:p.Ile32=
ENST00000703173.1:c.180T>C	ENSP00000515219.1:p.Ile60=
ENST00000703174.1:c.180T>C	ENSP00000515220.1:p.Ile60=
ENST00000703176.1:c.147T>C	ENSP00000515221.1:p.Ile49=
ENST00000703177.1:c.96T>C	ENSP00000515222.1:p.Ile32=
ENST00000395366.3:c.180T>C MANE Select	ENSP00000378769.2:p.Ile60=
ENST00000296122.10:c.180T>C	ENSP00000296122.6:p.Ile60=
ENST00000358506.6:c.180T>C	ENSP00000351298.2:p.Ile60=
ENST00000395366.2:c.180T>C	ENSP00000378769.2:p.Ile60=
ENST00000420282.5:c.180T>C	ENSP00000398839.1:p.Ile60=
ENST00000427786.1:c.96T>C	ENSP00000394589.1:p.Ile32=
ENST00000441461.5:c.180T>C	ENSP00000414918.1:p.Ile60=
ENST00000455580.5:c.96T>C	ENSP00000390715.1:p.Ile32=
ENST00000464273.1:n.294T>C
NM_002709.2:c.180T>C	NP_002700.1:p.Ile60=
NM_206876.1:c.180T>C	NP_996759.1:p.Ile60=
NM_002709.3:c.180T>C MANE Select	NP_002700.1:p.Ile60=
NM_206876.2:c.180T>C	NP_996759.1:p.Ile60=