Canonical Allele Identifier: CA174837000
Gene: PPP2CB HGNC NCBI

Linked Data

dbSNP Id: rs976178629
gnomAD v3: 8-30786103-G-A
gnomAD v4: 8-30786103-G-A
MyVariant Identifiers: chr8:g.30643619G>A (hg19) chr8:g.30786103G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.30786103G>A , CM000670.2:g.30786103G>A GRCh38
NC_000008.10:g.30643619G>A , CM000670.1:g.30643619G>A GRCh37
NC_000008.9:g.30763161G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221138.9:c.*132C>T MANE Select ENSP00000221138.4:n.*132C>T
ENST00000221138.8:c.*132C>T ENSP00000221138.4:n.*132C>T
ENST00000518564.1:c.142-114C>T ENSP00000428142.1:n.142-114C>T
ENST00000523023.1:c.181+108C>T
NM_001009552.1:c.*132C>T NP_001009552.1:n.*132C>T
NM_001009552.2:c.*132C>T MANE Select NP_001009552.1:n.*132C>T
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