Canonical Allele Identifier: CA2647280182

Gene: CASQ2

Linked Data

• gnomAD v4: 1-115738485-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115738486dup , CM000663.2:g.115738486dup	GRCh38
NC_000001.10:g.116281107dup , CM000663.1:g.116281107dup	GRCh37
NC_000001.9:g.116082630dup	NCBI36
NG_008802.1:g.35320dup , LRG_404:g.35320dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.145-151dup	ENSP00000518226.1:n.145-151dup
ENST00000261448.6:c.421-151dup MANE Select	ENSP00000261448.5:n.421-151dup
ENST00000261448.5:c.421-151dup	ENSP00000261448.5:n.421-151dup
NM_001232.3:c.421-151dup , LRG_404t1:c.421-151dup	NP_001223.2:n.421-151dup
NM_001232.4:c.421-151dup MANE Select	NP_001223.2:n.421-151dup