Canonical Allele Identifier: CA10586686

Gene: PPP1CB SPDYA

Linked Data

• ClinVar Variation Id: 254653
• ClinVar RCV Id: RCV000490625 ; RCV003985764 ; RCV003909879
• dbSNP Id: rs886037955
• MyVariant Identifiers: chr2:g.29016804G>A (hg19) ; chr2:g.28793938G>A (hg38)
• PubMed: PMID:27479843 ; PMID:27681385

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.28793938G>A , CM000664.2:g.28793938G>A	GRCh38
NC_000002.11:g.29016804G>A , CM000664.1:g.29016804G>A	GRCh37
NC_000002.10:g.28870308G>A	NCBI36
NG_052878.1:g.47191G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420282.6:c.820G>A (PPP1CB)	ENSP00000398839.2:p.Glu274Lys
ENST00000427786.2:c.*780G>A (PPP1CB)	ENSP00000394589.1:n.*780G>A
ENST00000441461.6:c.820G>A (PPP1CB)	ENSP00000414918.2:p.Glu274Lys
ENST00000455580.6:c.736G>A (PPP1CB)	ENSP00000390715.2:p.Glu246Lys
ENST00000703171.1:c.*867G>A (PPP1CB)	ENSP00000515217.1:n.*867G>A
ENST00000703172.1:c.736G>A (PPP1CB)	ENSP00000515218.1:p.Glu246Lys
ENST00000703173.1:c.820G>A (PPP1CB)	ENSP00000515219.1:p.Glu274Lys
ENST00000703174.1:c.943G>A (PPP1CB)	ENSP00000515220.1:p.Glu315Lys
ENST00000703176.1:c.787G>A (PPP1CB)	ENSP00000515221.1:p.Glu263Lys
ENST00000703177.1:c.*780G>A (PPP1CB)	ENSP00000515222.1:n.*780G>A
ENST00000703183.1:n.703G>A (PPP1CB)
ENST00000395366.3:c.820G>A (PPP1CB) MANE Select	ENSP00000378769.2:p.Glu274Lys
ENST00000296122.10:c.820G>A (PPP1CB)	ENSP00000296122.6:p.Glu274Lys
ENST00000358506.6:c.820G>A (PPP1CB)	ENSP00000351298.2:p.Glu274Lys
ENST00000395366.2:c.820G>A (PPP1CB)	ENSP00000378769.2:p.Glu274Lys
ENST00000462832.5:n.647G>A (SPDYA)
NM_002709.2:c.820G>A (PPP1CB)	NP_002700.1:p.Glu274Lys
NM_206876.1:c.820G>A (PPP1CB)	NP_996759.1:p.Glu274Lys
NM_002709.3:c.820G>A (PPP1CB) MANE Select	NP_002700.1:p.Glu274Lys
NM_206876.2:c.820G>A (PPP1CB)	NP_996759.1:p.Glu274Lys