Canonical Allele Identifier: CA2603604776
Gene: CASQ2 HGNC NCBI

Linked Data

gnomAD v3: 1-115768291-GC-G
gnomAD v4: 1-115768291-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768294del , CM000663.2:g.115768294del GRCh38
NC_000001.10:g.116310915del , CM000663.1:g.116310915del GRCh37
NC_000001.9:g.116112438del NCBI36
NG_008802.1:g.5514del , LRG_404:g.5514del

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-43+16del ENSP00000518226.1:n.-43+16del
ENST00000261448.6:c.234+16del MANE Select ENSP00000261448.5:n.234+16del
ENST00000261448.5:c.234+16del ENSP00000261448.5:n.234+16del
NM_001232.3:c.234+16del , LRG_404t1:c.234+16del NP_001223.2:n.234+16del
NM_001232.4:c.234+16del MANE Select NP_001223.2:n.234+16del
Search 100 bp 5'
Search 100 bp 3'