Canonical Allele Identifier: CA10586682

Gene: PPP1CB

Linked Data

• ClinVar Variation Id: 254648
• ClinVar RCV Id: RCV000257986 ; RCV000490622 ; RCV001265940 ; RCV001251211 ; RCV001257999 ; RCV002274002
• dbSNP Id: rs886037952
• MyVariant Identifiers: chr2:g.28999810C>G (hg19) ; chr2:g.28776944C>G (hg38)
• ERepo: CA10586682/MONDO:0021060/128
• PubMed: PMID:27264673 ; PMID:27681385 ; PMID:27868344 ; PMID:28135719 ; PMID:28211982

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.28776944C>G , CM000664.2:g.28776944C>G	GRCh38
NC_000002.11:g.28999810C>G , CM000664.1:g.28999810C>G	GRCh37
NC_000002.10:g.28853314C>G	NCBI36
NG_052878.1:g.30197C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000418910.2:c.146C>G	ENSP00000388056.2:p.Pro49Arg
ENST00000420282.6:c.146C>G	ENSP00000398839.2:p.Pro49Arg
ENST00000427786.2:c.62C>G	ENSP00000394589.1:p.Pro21Arg
ENST00000441461.6:c.146C>G	ENSP00000414918.2:p.Pro49Arg
ENST00000455580.6:c.62C>G	ENSP00000390715.2:p.Pro21Arg
ENST00000703171.1:c.146C>G	ENSP00000515217.1:p.Pro49Arg
ENST00000703172.1:c.62C>G	ENSP00000515218.1:p.Pro21Arg
ENST00000703173.1:c.146C>G	ENSP00000515219.1:p.Pro49Arg
ENST00000703174.1:c.146C>G	ENSP00000515220.1:p.Pro49Arg
ENST00000703176.1:c.113C>G	ENSP00000515221.1:p.Pro38Arg
ENST00000703177.1:c.62C>G	ENSP00000515222.1:p.Pro21Arg
ENST00000395366.3:c.146C>G MANE Select	ENSP00000378769.2:p.Pro49Arg
ENST00000296122.10:c.146C>G	ENSP00000296122.6:p.Pro49Arg
ENST00000358506.6:c.146C>G	ENSP00000351298.2:p.Pro49Arg
ENST00000395366.2:c.146C>G	ENSP00000378769.2:p.Pro49Arg
ENST00000420282.5:c.146C>G	ENSP00000398839.1:p.Pro49Arg
ENST00000427786.1:c.62C>G	ENSP00000394589.1:p.Pro21Arg
ENST00000441461.5:c.146C>G	ENSP00000414918.1:p.Pro49Arg
ENST00000455580.5:c.62C>G	ENSP00000390715.1:p.Pro21Arg
ENST00000464273.1:n.260C>G
NM_002709.2:c.146C>G	NP_002700.1:p.Pro49Arg
NM_206876.1:c.146C>G	NP_996759.1:p.Pro49Arg
NM_002709.3:c.146C>G MANE Select	NP_002700.1:p.Pro49Arg
NM_206876.2:c.146C>G	NP_996759.1:p.Pro49Arg