Canonical Allele Identifier: CA2647256844
Gene: CASQ2 HGNC NCBI

Linked Data

gnomAD v4: 1-115700796-GAGC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115700797_115700799del , CM000663.2:g.115700797_115700799del GRCh38
NC_000001.10:g.116243418_116243420del , CM000663.1:g.116243418_116243420del GRCh37
NC_000001.9:g.116044941_116044943del NCBI36
NG_008802.1:g.73007_73009del , LRG_404:g.73007_73009del

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.*1014_*1016del ENSP00000518226.1:n.*1014_*1016del
ENST00000261448.6:c.*442_*444del MANE Select ENSP00000261448.5:n.*442_*444del
ENST00000261448.5:c.*442_*444del ENSP00000261448.5:n.*442_*444del
NM_001232.3:c.*442_*444del , LRG_404t1:c.*442_*444del NP_001223.2:n.*442_*444del
NM_001232.4:c.*442_*444del MANE Select NP_001223.2:n.*442_*444del
Search 100 bp 5'
Search 100 bp 3'