Canonical Allele Identifier: CA2745159414
Gene: CASQ2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768556del , CM000663.2:g.115768556del GRCh38
NC_000001.10:g.116311177del , CM000663.1:g.116311177del GRCh37
NC_000001.9:g.116112700del NCBI36
NG_008802.1:g.5250del , LRG_404:g.5250del

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-223-68del ENSP00000518226.1:n.-223-68del
ENST00000261448.6:c.-15del MANE Select ENSP00000261448.5:n.-15del
ENST00000261448.5:c.-15del ENSP00000261448.5:n.-15del
NM_001232.3:c.-15del , LRG_404t1:c.-15del NP_001223.2:n.-15del
NM_001232.4:c.-15del MANE Select NP_001223.2:n.-15del
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