Canonical Allele Identifier: CA1190729324

Gene: CASQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115738399_115738401delinsCAG , CM000663.2:g.115738399_115738401delinsCAG	GRCh38
NC_000001.10:g.116281020_116281022delinsCAG , CM000663.1:g.116281020_116281022delinsCAG	GRCh37
NC_000001.9:g.116082543_116082545delinsCAG	NCBI36
NG_008802.1:g.35405_35407delinsCTG , LRG_404:g.35405_35407delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.145-66_145-64delinsCTG	ENSP00000518226.1:n.145-66_145-64delinsCTG
ENST00000261448.6:c.421-66_421-64delinsCTG MANE Select	ENSP00000261448.5:n.421-66_421-64delinsCTG
ENST00000261448.5:c.421-66_421-64delinsCTG	ENSP00000261448.5:n.421-66_421-64delinsCTG
NM_001232.3:c.421-66_421-64delinsCTG , LRG_404t1:c.421-66_421-64delinsCTG	NP_001223.2:n.421-66_421-64delinsCTG
NM_001232.4:c.421-66_421-64delinsCTG MANE Select	NP_001223.2:n.421-66_421-64delinsCTG