Canonical Allele Identifier: CA2647281227
Gene: CASQ2 HGNC NCBI

Linked Data

gnomAD v4: 1-115768531-GTTCTC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768535_115768539del , CM000663.2:g.115768535_115768539del GRCh38
NC_000001.10:g.116311156_116311160del , CM000663.1:g.116311156_116311160del GRCh37
NC_000001.9:g.116112679_116112683del NCBI36
NG_008802.1:g.5270_5274del , LRG_404:g.5270_5274del

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-223-48_-223-44del ENSP00000518226.1:n.-223-48_-223-44del
ENST00000261448.6:c.6_10del MANE Select ENSP00000261448.5:p.Lys2AsnfsTer21
ENST00000261448.5:c.6_10del ENSP00000261448.5:p.Lys2AsnfsTer21
NM_001232.3:c.6_10del , LRG_404t1:c.6_10del NP_001223.2:p.Lys2AsnfsTer21
NM_001232.4:c.6_10del MANE Select NP_001223.2:p.Lys2AsnfsTer21
Search 100 bp 5'
Search 100 bp 3'