Canonical Allele Identifier: CA1190729380

Gene: CASQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115738520_115738523delinsCTTA , CM000663.2:g.115738520_115738523delinsCTTA	GRCh38
NC_000001.10:g.116281141_116281144delinsCTTA , CM000663.1:g.116281141_116281144delinsCTTA	GRCh37
NC_000001.9:g.116082664_116082667delinsCTTA	NCBI36
NG_008802.1:g.35283_35286delinsTAAG , LRG_404:g.35283_35286delinsTAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.145-188_145-185delinsTAAG	ENSP00000518226.1:n.145-188_145-185delinsTAAG
ENST00000261448.6:c.421-188_421-185delinsTAAG MANE Select	ENSP00000261448.5:n.421-188_421-185delinsTAAG
ENST00000261448.5:c.421-188_421-185delinsTAAG	ENSP00000261448.5:n.421-188_421-185delinsTAAG
NM_001232.3:c.421-188_421-185delinsTAAG , LRG_404t1:c.421-188_421-185delinsTAAG	NP_001223.2:n.421-188_421-185delinsTAAG
NM_001232.4:c.421-188_421-185delinsTAAG MANE Select	NP_001223.2:n.421-188_421-185delinsTAAG