Canonical Allele Identifier: CA885948367

Gene: CASQ2

Linked Data

• dbSNP Id: rs1249263005
• gnomAD v3: 1-115732719-G-GTCATCTTTGTAC
• gnomAD v4: 1-115732719-G-GTCATCTTTGTAC
• MyVariant Identifiers: chr1:g.116275340_116275341insTCATCTTTGTAC (hg19) ; chr1:g.115732719_115732720insTCATCTTTGTAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115732727_115732738dup , CM000663.2:g.115732727_115732738dup	GRCh38
NC_000001.10:g.116275348_116275359dup , CM000663.1:g.116275348_116275359dup	GRCh37
NC_000001.9:g.116076871_116076882dup	NCBI36
NG_008802.1:g.41075_41086dup , LRG_404:g.41075_41086dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000488931.2:c.330+170_330+181dup	ENSP00000518226.1:n.330+170_330+181dup
ENST00000261448.6:c.606+170_606+181dup MANE Select	ENSP00000261448.5:n.606+170_606+181dup
ENST00000261448.5:c.606+170_606+181dup	ENSP00000261448.5:n.606+170_606+181dup
ENST00000488931.1:n.27+170_27+181dup
NM_001232.3:c.606+170_606+181dup , LRG_404t1:c.606+170_606+181dup	NP_001223.2:n.606+170_606+181dup
NM_001232.4:c.606+170_606+181dup MANE Select	NP_001223.2:n.606+170_606+181dup