Canonical Allele Identifier: CA2647281251
Gene: CASQ2 HGNC NCBI

Linked Data

gnomAD v4: 1-115768568-CA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768571del , CM000663.2:g.115768571del GRCh38
NC_000001.10:g.116311192del , CM000663.1:g.116311192del GRCh37
NC_000001.9:g.116112715del NCBI36
NG_008802.1:g.5237del , LRG_404:g.5237del

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-223-81del ENSP00000518226.1:n.-223-81del
ENST00000261448.6:c.-28del MANE Select ENSP00000261448.5:n.-28del
ENST00000261448.5:c.-28del ENSP00000261448.5:n.-28del
NM_001232.3:c.-28del , LRG_404t1:c.-28del NP_001223.2:n.-28del
NM_001232.4:c.-28del MANE Select NP_001223.2:n.-28del
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