Canonical Allele Identifier: CA2574037231

Gene: CASQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115738207del , CM000663.2:g.115738207del	GRCh38
NC_000001.10:g.116280828del , CM000663.1:g.116280828del	GRCh37
NC_000001.9:g.116082351del	NCBI36
NG_008802.1:g.35602del , LRG_404:g.35602del

Transcript Alleles

HGVS	Amino-acid change
ENST00000488931.2:c.256+20del	ENSP00000518226.1:n.256+20del
ENST00000261448.6:c.532+20del MANE Select	ENSP00000261448.5:n.532+20del
ENST00000261448.5:c.532+20del	ENSP00000261448.5:n.532+20del
NM_001232.3:c.532+20del , LRG_404t1:c.532+20del	NP_001223.2:n.532+20del
NM_001232.4:c.532+20del MANE Select	NP_001223.2:n.532+20del