Canonical Allele Identifier: CA14824067
Gene: CABLES2 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.62394395C>T
GRCh37 chr20:g.60969451C>T
gnomAD v2:
20:60969451 C / T
gnomAD v3:
20:62394395 C / T
gnomAD v4:
chr20-62394395-C-T
Joint Max Group AF 0.25255711 (MID)
Genomes Max Group AF 0.2407326 (AMR)
Exomes Max Group AF 0.25237214 (MID)
dbSNP:
2427308
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.62394395C>T , CM000682.2:g.62394395C>T GRCh38
NC_000020.10:g.60969451C>T , CM000682.1:g.60969451C>T GRCh37
NC_000020.9:g.60402846C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000279101.10:c.606-130G>A MANE Select ENSP00000279101.5:n.606-130G>A
ENST00000279101.9:c.606-130G>A ENSP00000279101.5:n.606-130G>A
ENST00000453274.1:c.95+542G>A
NM_031215.2:c.606-130G>A NP_112492.2:n.606-130G>A
XM_011529074.1:c.30-130G>A XP_011527376.1:n.30-130G>A
NM_031215.3:c.606-130G>A MANE Select NP_112492.2:n.606-130G>A
Search 100 bp 5'
Search 100 bp 3'