Canonical Allele Identifier: CA2647256722
Gene: CASQ2 HGNC NCBI

Linked Data

gnomAD v4: 1-115700704-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115700704G>T , CM000663.2:g.115700704G>T GRCh38
NC_000001.10:g.116243325G>T , CM000663.1:g.116243325G>T GRCh37
NC_000001.9:g.116044848G>T NCBI36
NG_008802.1:g.73102C>A , LRG_404:g.73102C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.*1109C>A ENSP00000518226.1:n.*1109C>A
ENST00000261448.6:c.*537C>A MANE Select ENSP00000261448.5:n.*537C>A
ENST00000261448.5:c.*537C>A ENSP00000261448.5:n.*537C>A
NM_001232.3:c.*537C>A , LRG_404t1:c.*537C>A NP_001223.2:n.*537C>A
NM_001232.4:c.*537C>A MANE Select NP_001223.2:n.*537C>A
Search 100 bp 5'
Search 100 bp 3'