Canonical Allele Identifier: CA1190729381

Gene: CASQ2

Linked Data

• dbSNP Id: rs1648045091

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115738521_115738523del , CM000663.2:g.115738521_115738523del	GRCh38
NC_000001.10:g.116281142_116281144del , CM000663.1:g.116281142_116281144del	GRCh37
NC_000001.9:g.116082665_116082667del	NCBI36
NG_008802.1:g.35283_35285del , LRG_404:g.35283_35285del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.145-188_145-186del	ENSP00000518226.1:n.145-188_145-186del
ENST00000261448.6:c.421-188_421-186del MANE Select	ENSP00000261448.5:n.421-188_421-186del
ENST00000261448.5:c.421-188_421-186del	ENSP00000261448.5:n.421-188_421-186del
NM_001232.3:c.421-188_421-186del , LRG_404t1:c.421-188_421-186del	NP_001223.2:n.421-188_421-186del
NM_001232.4:c.421-188_421-186del MANE Select	NP_001223.2:n.421-188_421-186del