Canonical Allele Identifier: CA525428152

Gene: CASQ2

Linked Data

• dbSNP Id: rs1407618909
• gnomAD v2: 1-116281020-CAG-C
• gnomAD v3: 1-115738399-CAG-C
• gnomAD v4: 1-115738399-CAG-C
• MyVariant Identifiers: chr1:g.116281021_116281022del (hg19) ; chr1:g.115738400_115738401del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115738402_115738403del , CM000663.2:g.115738402_115738403del	GRCh38
NC_000001.10:g.116281023_116281024del , CM000663.1:g.116281023_116281024del	GRCh37
NC_000001.9:g.116082546_116082547del	NCBI36
NG_008802.1:g.35405_35406del , LRG_404:g.35405_35406del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.145-66_145-65del	ENSP00000518226.1:n.145-66_145-65del
ENST00000261448.6:c.421-66_421-65del MANE Select	ENSP00000261448.5:n.421-66_421-65del
ENST00000261448.5:c.421-66_421-65del	ENSP00000261448.5:n.421-66_421-65del
NM_001232.3:c.421-66_421-65del , LRG_404t1:c.421-66_421-65del	NP_001223.2:n.421-66_421-65del
NM_001232.4:c.421-66_421-65del MANE Select	NP_001223.2:n.421-66_421-65del