Canonical Allele Identifier: CA174837024
Gene: PPP2CB HGNC NCBI

Linked Data

dbSNP Id: rs927478995
gnomAD v3: 8-30786136-A-G
gnomAD v4: 8-30786136-A-G
MyVariant Identifiers: chr8:g.30643652A>G (hg19) chr8:g.30786136A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.30786136A>G , CM000670.2:g.30786136A>G GRCh38
NC_000008.10:g.30643652A>G , CM000670.1:g.30643652A>G GRCh37
NC_000008.9:g.30763194A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221138.9:c.*99T>C MANE Select ENSP00000221138.4:n.*99T>C
ENST00000221138.8:c.*99T>C ENSP00000221138.4:n.*99T>C
ENST00000518532.1:n.539T>C
ENST00000518564.1:c.142-147T>C ENSP00000428142.1:n.142-147T>C
ENST00000522113.1:n.229T>C
ENST00000523023.1:c.181+75T>C
NM_001009552.1:c.*99T>C NP_001009552.1:n.*99T>C
NM_001009552.2:c.*99T>C MANE Select NP_001009552.1:n.*99T>C
Search 100 bp 5'
Search 100 bp 3'