Canonical Allele Identifier: CA2647281223

Gene: CASQ2

Linked Data

• gnomAD v4: 1-115768373-G-GGTA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115768378_115768380dup , CM000663.2:g.115768378_115768380dup	GRCh38
NC_000001.10:g.116310999_116311001dup , CM000663.1:g.116310999_116311001dup	GRCh37
NC_000001.9:g.116112522_116112524dup	NCBI36
NG_008802.1:g.5430_5432dup , LRG_404:g.5430_5432dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.-111_-109dup	ENSP00000518226.1:n.-111_-109dup
ENST00000261448.6:c.166_168dup MANE Select	ENSP00000261448.5:p.Tyr56_His57insTyr
ENST00000261448.5:c.166_168dup	ENSP00000261448.5:p.Tyr56_His57insTyr
NM_001232.3:c.166_168dup , LRG_404t1:c.166_168dup	NP_001223.2:p.Tyr56_His57insTyr
NM_001232.4:c.166_168dup MANE Select	NP_001223.2:p.Tyr56_His57insTyr