Canonical Allele Identifier: CA2647281137
Gene: CASQ2 HGNC NCBI

Linked Data

gnomAD v4: 1-115768183-CA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768187del , CM000663.2:g.115768187del GRCh38
NC_000001.10:g.116310808del , CM000663.1:g.116310808del GRCh37
NC_000001.9:g.116112331del NCBI36
NG_008802.1:g.5622del , LRG_404:g.5622del

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-43+124del ENSP00000518226.1:n.-43+124del
ENST00000261448.6:c.234+124del MANE Select ENSP00000261448.5:n.234+124del
ENST00000261448.5:c.234+124del ENSP00000261448.5:n.234+124del
NM_001232.3:c.234+124del , LRG_404t1:c.234+124del NP_001223.2:n.234+124del
NM_001232.4:c.234+124del MANE Select NP_001223.2:n.234+124del
Search 100 bp 5'
Search 100 bp 3'