Canonical Allele Identifier: CA425499546
Gene: PPP1CB HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.28999838G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.28776972G>T , CM000664.2:g.28776972G>T GRCh38
NC_000002.11:g.28999838G>T , CM000664.1:g.28999838G>T GRCh37
NC_000002.10:g.28853342G>T NCBI36
NG_052878.1:g.30225G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000418910.2:c.174G>T ENSP00000388056.2:p.Leu58=
ENST00000420282.6:c.174G>T ENSP00000398839.2:p.Leu58=
ENST00000427786.2:c.90G>T ENSP00000394589.1:p.Leu30=
ENST00000441461.6:c.174G>T ENSP00000414918.2:p.Leu58=
ENST00000455580.6:c.90G>T ENSP00000390715.2:p.Leu30=
ENST00000703171.1:c.174G>T ENSP00000515217.1:p.Leu58=
ENST00000703172.1:c.90G>T ENSP00000515218.1:p.Leu30=
ENST00000703173.1:c.174G>T ENSP00000515219.1:p.Leu58=
ENST00000703174.1:c.174G>T ENSP00000515220.1:p.Leu58=
ENST00000703176.1:c.141G>T ENSP00000515221.1:p.Leu47=
ENST00000703177.1:c.90G>T ENSP00000515222.1:p.Leu30=
ENST00000395366.3:c.174G>T MANE Select ENSP00000378769.2:p.Leu58=
ENST00000296122.10:c.174G>T ENSP00000296122.6:p.Leu58=
ENST00000358506.6:c.174G>T ENSP00000351298.2:p.Leu58=
ENST00000395366.2:c.174G>T ENSP00000378769.2:p.Leu58=
ENST00000420282.5:c.174G>T ENSP00000398839.1:p.Leu58=
ENST00000427786.1:c.90G>T ENSP00000394589.1:p.Leu30=
ENST00000441461.5:c.174G>T ENSP00000414918.1:p.Leu58=
ENST00000455580.5:c.90G>T ENSP00000390715.1:p.Leu30=
ENST00000464273.1:n.288G>T
NM_002709.2:c.174G>T NP_002700.1:p.Leu58=
NM_206876.1:c.174G>T NP_996759.1:p.Leu58=
NM_002709.3:c.174G>T MANE Select NP_002700.1:p.Leu58=
NM_206876.2:c.174G>T NP_996759.1:p.Leu58=