Canonical Allele Identifier: CA2647280083
Gene: CASQ2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738344_115738345insA , CM000663.2:g.115738344_115738345insA GRCh38
NC_000001.10:g.116280965_116280966insA , CM000663.1:g.116280965_116280966insA GRCh37
NC_000001.9:g.116082488_116082489insA NCBI36
NG_008802.1:g.35461_35462insT , LRG_404:g.35461_35462insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.145-10_145-9insT ENSP00000518226.1:n.145-10_145-9insT
ENST00000261448.6:c.421-10_421-9insT MANE Select ENSP00000261448.5:n.421-10_421-9insT
ENST00000261448.5:c.421-10_421-9insT ENSP00000261448.5:n.421-10_421-9insT
NM_001232.3:c.421-10_421-9insT , LRG_404t1:c.421-10_421-9insT NP_001223.2:n.421-10_421-9insT
NM_001232.4:c.421-10_421-9insT MANE Select NP_001223.2:n.421-10_421-9insT