Canonical Allele Identifier: CA1024009
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs780663288
ExAC: 1:116311123 GA / G
gnomAD v2: 1-116311123-GA-G
MyVariant Identifiers: chr1:g.116311124del (hg19) chr1:g.115768503del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768506del , CM000663.2:g.115768506del GRCh38
NC_000001.10:g.116311127del , CM000663.1:g.116311127del GRCh37
NC_000001.9:g.116112650del NCBI36
NG_008802.1:g.5303del , LRG_404:g.5303del

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-223-15del ENSP00000518226.1:n.-223-15del
ENST00000261448.6:c.39del MANE Select ENSP00000261448.5:p.Leu14CysfsTer22
ENST00000261448.5:c.39del ENSP00000261448.5:p.Leu14CysfsTer22
NM_001232.3:c.39del , LRG_404t1:c.39del NP_001223.2:p.Leu14CysfsTer22
NM_001232.4:c.39del MANE Select NP_001223.2:p.Leu14CysfsTer22
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