Canonical Allele Identifier: CA2647281214

Gene: CASQ2

Linked Data

• gnomAD v4: 1-115768288-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115768289dup , CM000663.2:g.115768289dup	GRCh38
NC_000001.10:g.116310910dup , CM000663.1:g.116310910dup	GRCh37
NC_000001.9:g.116112433dup	NCBI36
NG_008802.1:g.5517dup , LRG_404:g.5517dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.-43+19dup	ENSP00000518226.1:n.-43+19dup
ENST00000261448.6:c.234+19dup MANE Select	ENSP00000261448.5:n.234+19dup
ENST00000261448.5:c.234+19dup	ENSP00000261448.5:n.234+19dup
NM_001232.3:c.234+19dup , LRG_404t1:c.234+19dup	NP_001223.2:n.234+19dup
NM_001232.4:c.234+19dup MANE Select	NP_001223.2:n.234+19dup