Canonical Allele Identifier: CA645523454
Gene: CASQ2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768342dup , CM000663.2:g.115768342dup GRCh38
NC_000001.10:g.116310963dup , CM000663.1:g.116310963dup GRCh37
NC_000001.9:g.116112486dup NCBI36
NG_008802.1:g.5468dup , LRG_404:g.5468dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-73dup ENSP00000518226.1:n.-73dup
ENST00000261448.6:c.204dup MANE Select ENSP00000261448.5:p.Gln69ThrfsTer10
ENST00000261448.5:c.204dup ENSP00000261448.5:p.Gln69ThrfsTer10
NM_001232.3:c.204dup , LRG_404t1:c.204dup NP_001223.2:p.Gln69ThrfsTer10
NM_001232.4:c.204dup MANE Select NP_001223.2:p.Gln69ThrfsTer10