Canonical Allele Identifier: CA174837019
Gene: PPP2CB HGNC NCBI

Linked Data

dbSNP Id: rs568065256
gnomAD v4: 8-30786124-C-A
MyVariant Identifiers: chr8:g.30643640C>A (hg19) chr8:g.30786124C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.30786124C>A , CM000670.2:g.30786124C>A GRCh38
NC_000008.10:g.30643640C>A , CM000670.1:g.30643640C>A GRCh37
NC_000008.9:g.30763182C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221138.9:c.*111G>T MANE Select ENSP00000221138.4:n.*111G>T
ENST00000221138.8:c.*111G>T ENSP00000221138.4:n.*111G>T
ENST00000518532.1:n.551G>T
ENST00000518564.1:c.142-135G>T ENSP00000428142.1:n.142-135G>T
ENST00000523023.1:c.181+87G>T
NM_001009552.1:c.*111G>T NP_001009552.1:n.*111G>T
NM_001009552.2:c.*111G>T MANE Select NP_001009552.1:n.*111G>T
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