Canonical Allele Identifier: CA2574141229
Gene: CASQ2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768244del , CM000663.2:g.115768244del GRCh38
NC_000001.10:g.116310865del , CM000663.1:g.116310865del GRCh37
NC_000001.9:g.116112388del NCBI36
NG_008802.1:g.5563del , LRG_404:g.5563del

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-43+65del ENSP00000518226.1:n.-43+65del
ENST00000261448.6:c.234+65del MANE Select ENSP00000261448.5:n.234+65del
ENST00000261448.5:c.234+65del ENSP00000261448.5:n.234+65del
NM_001232.3:c.234+65del , LRG_404t1:c.234+65del NP_001223.2:n.234+65del
NM_001232.4:c.234+65del MANE Select NP_001223.2:n.234+65del
Search 100 bp 5'
Search 100 bp 3'