Canonical Allele Identifier: CA2697554477
Gene: CASQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2704628
ClinVar RCV Id: RCV003525656
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768511del , CM000663.2:g.115768511del GRCh38
NC_000001.10:g.116311132del , CM000663.1:g.116311132del GRCh37
NC_000001.9:g.116112655del NCBI36
NG_008802.1:g.5295del , LRG_404:g.5295del

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-223-23del ENSP00000518226.1:n.-223-23del
ENST00000261448.6:c.31del MANE Select ENSP00000261448.5:p.Ile11PhefsTer25
ENST00000261448.5:c.31del ENSP00000261448.5:p.Ile11PhefsTer25
NM_001232.3:c.31del , LRG_404t1:c.31del NP_001223.2:p.Ile11PhefsTer25
NM_001232.4:c.31del MANE Select NP_001223.2:p.Ile11PhefsTer25
Search 100 bp 5'
Search 100 bp 3'