Canonical Allele Identifier: CA174837080

Gene: PPP2CB

Linked Data

• dbSNP Id: rs992956774
• gnomAD v2: 8-30643732-C-G
• gnomAD v3: 8-30786216-C-G
• gnomAD v4: 8-30786216-C-G
• MyVariant Identifiers: chr8:g.30643732C>G (hg19) ; chr8:g.30786216C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.30786216C>G , CM000670.2:g.30786216C>G	GRCh38
NC_000008.10:g.30643732C>G , CM000670.1:g.30643732C>G	GRCh37
NC_000008.9:g.30763274C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000221138.9:c.*19G>C MANE Select	ENSP00000221138.4:n.*19G>C
ENST00000221138.8:c.*19G>C	ENSP00000221138.4:n.*19G>C
ENST00000518532.1:n.459G>C
ENST00000518564.1:c.142-227G>C	ENSP00000428142.1:n.142-227G>C
ENST00000522113.1:n.149G>C
ENST00000523023.1:c.176G>C
NM_001009552.1:c.*19G>C	NP_001009552.1:n.*19G>C
NM_001009552.2:c.*19G>C MANE Select	NP_001009552.1:n.*19G>C