Canonical Allele Identifier: CA885889813
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs1214654420
gnomAD v3: 1-115768159-AAGGGCATCTGATTCACGTG-A
gnomAD v4: 1-115768159-AAGGGCATCTGATTCACGTG-A
MyVariant Identifiers: chr1:g.116310781_116310799del (hg19) chr1:g.115768160_115768178del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768163_115768181del , CM000663.2:g.115768163_115768181del GRCh38
NC_000001.10:g.116310784_116310802del , CM000663.1:g.116310784_116310802del GRCh37
NC_000001.9:g.116112307_116112325del NCBI36
NG_008802.1:g.5628_5646del , LRG_404:g.5628_5646del

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-43+130_-43+148del ENSP00000518226.1:n.-43+130_-43+148del
ENST00000261448.6:c.234+130_234+148del MANE Select ENSP00000261448.5:n.234+130_234+148del
ENST00000261448.5:c.234+130_234+148del ENSP00000261448.5:n.234+130_234+148del
NM_001232.3:c.234+130_234+148del , LRG_404t1:c.234+130_234+148del NP_001223.2:n.234+130_234+148del
NM_001232.4:c.234+130_234+148del MANE Select NP_001223.2:n.234+130_234+148del
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