Canonical Allele Identifier: CA885947940

Gene: CASQ2

Linked Data

• dbSNP Id: rs1486574511
• MyVariant Identifiers: chr1:g.116273797_116273800del (hg19) ; chr1:g.115731176_115731179del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115731177_115731180del , CM000663.2:g.115731177_115731180del	GRCh38
NC_000001.10:g.116273798_116273801del , CM000663.1:g.116273798_116273801del	GRCh37
NC_000001.9:g.116075321_116075324del	NCBI36
NG_008802.1:g.42627_42630del , LRG_404:g.42627_42630del

Transcript Alleles

HGVS	Amino-acid change
ENST00000488931.2:c.425+935_425+938del	ENSP00000518226.1:n.425+935_425+938del
ENST00000261448.6:c.606+1722_606+1725del MANE Select	ENSP00000261448.5:n.606+1722_606+1725del
ENST00000261448.5:c.606+1722_606+1725del	ENSP00000261448.5:n.606+1722_606+1725del
ENST00000488931.1:n.122+935_122+938del
NM_001232.3:c.606+1722_606+1725del , LRG_404t1:c.606+1722_606+1725del	NP_001223.2:n.606+1722_606+1725del
NM_001232.4:c.606+1722_606+1725del MANE Select	NP_001223.2:n.606+1722_606+1725del