Canonical Allele Identifier: CA2745159024

Gene: CASQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115738354_115738356del , CM000663.2:g.115738354_115738356del	GRCh38
NC_000001.10:g.116280975_116280977del , CM000663.1:g.116280975_116280977del	GRCh37
NC_000001.9:g.116082498_116082500del	NCBI36
NG_008802.1:g.35450_35452del , LRG_404:g.35450_35452del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.145-21_145-19del	ENSP00000518226.1:n.145-21_145-19del
ENST00000261448.6:c.421-21_421-19del MANE Select	ENSP00000261448.5:n.421-21_421-19del
ENST00000261448.5:c.421-21_421-19del	ENSP00000261448.5:n.421-21_421-19del
NM_001232.3:c.421-21_421-19del , LRG_404t1:c.421-21_421-19del	NP_001223.2:n.421-21_421-19del
NM_001232.4:c.421-21_421-19del MANE Select	NP_001223.2:n.421-21_421-19del