Canonical Allele Identifier: CA174837055
Gene: PPP2CB HGNC NCBI

Linked Data

dbSNP Id: rs553835196
gnomAD v3: 8-30786158-C-T
gnomAD v4: 8-30786158-C-T
MyVariant Identifiers: chr8:g.30643674C>T (hg19) chr8:g.30786158C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.30786158C>T , CM000670.2:g.30786158C>T GRCh38
NC_000008.10:g.30643674C>T , CM000670.1:g.30643674C>T GRCh37
NC_000008.9:g.30763216C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221138.9:c.*77G>A MANE Select ENSP00000221138.4:n.*77G>A
ENST00000221138.8:c.*77G>A ENSP00000221138.4:n.*77G>A
ENST00000518532.1:n.517G>A
ENST00000518564.1:c.142-169G>A ENSP00000428142.1:n.142-169G>A
ENST00000522113.1:n.207G>A
ENST00000523023.1:c.181+53G>A
NM_001009552.1:c.*77G>A NP_001009552.1:n.*77G>A
NM_001009552.2:c.*77G>A MANE Select NP_001009552.1:n.*77G>A
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