Canonical Allele Identifier: CA2574037291
Gene: CASQ2 HGNC NCBI

Linked Data

gnomAD v4: 1-115732814-TA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115732818del , CM000663.2:g.115732818del GRCh38
NC_000001.10:g.116275439del , CM000663.1:g.116275439del GRCh37
NC_000001.9:g.116076962del NCBI36
NG_008802.1:g.40991del , LRG_404:g.40991del

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.330+86del ENSP00000518226.1:n.330+86del
ENST00000261448.6:c.606+86del MANE Select ENSP00000261448.5:n.606+86del
ENST00000261448.5:c.606+86del ENSP00000261448.5:n.606+86del
ENST00000488931.1:n.27+86del
NM_001232.3:c.606+86del , LRG_404t1:c.606+86del NP_001223.2:n.606+86del
NM_001232.4:c.606+86del MANE Select NP_001223.2:n.606+86del
Search 100 bp 5'
Search 100 bp 3'