Canonical Allele Identifier: CA10586682
Gene: PPP1CB HGNC NCBI

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
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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
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