Canonical Allele Identifier: CA525428163
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs1375417225
gnomAD v2: 1-116281133-GAACTT-G
gnomAD v3: 1-115738512-GAACTT-G
gnomAD v4: 1-115738512-GAACTT-G
MyVariant Identifiers: chr1:g.116281134_116281138del (hg19) chr1:g.115738513_115738517del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738520_115738524del , CM000663.2:g.115738520_115738524del GRCh38
NC_000001.10:g.116281141_116281145del , CM000663.1:g.116281141_116281145del GRCh37
NC_000001.9:g.116082664_116082668del NCBI36
NG_008802.1:g.35289_35293del , LRG_404:g.35289_35293del

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.145-182_145-178del ENSP00000518226.1:n.145-182_145-178del
ENST00000261448.6:c.421-182_421-178del MANE Select ENSP00000261448.5:n.421-182_421-178del
ENST00000261448.5:c.421-182_421-178del ENSP00000261448.5:n.421-182_421-178del
NM_001232.3:c.421-182_421-178del , LRG_404t1:c.421-182_421-178del NP_001223.2:n.421-182_421-178del
NM_001232.4:c.421-182_421-178del MANE Select NP_001223.2:n.421-182_421-178del
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