Canonical Allele Identifier: CA2647281225
Gene: CASQ2 HGNC NCBI

Linked Data

gnomAD v4: 1-115768463-T-TG
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768467dup , CM000663.2:g.115768467dup GRCh38
NC_000001.10:g.116311088dup , CM000663.1:g.116311088dup GRCh37
NC_000001.9:g.116112611dup NCBI36
NG_008802.1:g.5342dup , LRG_404:g.5342dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-199dup ENSP00000518226.1:n.-199dup
ENST00000261448.6:c.78dup MANE Select ENSP00000261448.5:p.Thr27HisfsTer3
ENST00000261448.5:c.78dup ENSP00000261448.5:p.Thr27HisfsTer3
NM_001232.3:c.78dup , LRG_404t1:c.78dup NP_001223.2:p.Thr27HisfsTer3
NM_001232.4:c.78dup MANE Select NP_001223.2:p.Thr27HisfsTer3
Search 100 bp 5'
Search 100 bp 3'