Canonical Allele Identifier: CA525631272
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs1324526301
gnomAD v2: 1-116311110-CT-C
gnomAD v4: 1-115768489-CT-C
MyVariant Identifiers: chr1:g.116311111del (hg19) chr1:g.115768490del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768490del , CM000663.2:g.115768490del GRCh38
NC_000001.10:g.116311111del , CM000663.1:g.116311111del GRCh37
NC_000001.9:g.116112634del NCBI36
NG_008802.1:g.5316del , LRG_404:g.5316del

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-223-2del ENSP00000518226.1:n.-223-2del
ENST00000261448.6:c.52del MANE Select ENSP00000261448.5:p.Arg18GlyfsTer18
ENST00000261448.5:c.52del ENSP00000261448.5:p.Arg18GlyfsTer18
NM_001232.3:c.52del , LRG_404t1:c.52del NP_001223.2:p.Arg18GlyfsTer18
NM_001232.4:c.52del MANE Select NP_001223.2:p.Arg18GlyfsTer18
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