Canonical Allele Identifier: CA525428149

Gene: CASQ2

Linked Data

• dbSNP Id: rs1315067975
• gnomAD v2: 1-116281004-T-TACTGACCTCAGGTGATCCACCTCCCCCCTCGGCCTCCCAAAG
• MyVariant Identifiers: chr1:g.116281004_116281005insACTGACCTCAGGTGATCCACCTCCCCCCTCGGCCTCCCAAAG (hg19) ; chr1:g.115738383_115738384insACTGACCTCAGGTGATCCACCTCCCCCCTCGGCCTCCCAAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115738383_115738384insACTGACCTCAGGTGATCCACCTCCCCCCTCGGCCTCCCAAAG , CM000663.2:g.115738383_115738384insACTGACCTCAGGTGATCCACCTCCCCCCTCGGCCTCCCAAAG	GRCh38
NC_000001.10:g.116281004_116281005insACTGACCTCAGGTGATCCACCTCCCCCCTCGGCCTCCCAAAG , CM000663.1:g.116281004_116281005insACTGACCTCAGGTGATCCACCTCCCCCCTCGGCCTCCCAAAG	GRCh37
NC_000001.9:g.116082527_116082528insACTGACCTCAGGTGATCCACCTCCCCCCTCGGCCTCCCAAAG	NCBI36
NG_008802.1:g.35422_35423insCTTTGGGAGGCCGAGGGGGGAGGTGGATCACCTGAGGTCAGT , LRG_404:g.35422_35423insCTTTGGGAGGCCGAGGGGGGAGGTGGATCACCTGAGGTCAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.145-49_145-48insCTTTGGGAGGCCGAGGGGGGAGGTGGATCACCTGAGGTCAGT	ENSP00000518226.1:n.145-49_145-48insCTTTGGGAGGCCGAGGGGGGAGGTG...
ENST00000261448.6:c.421-49_421-48insCTTTGGGAGGCCGAGGGGGGAGGTGGATCACCTGAGGTCAGT MANE Select	ENSP00000261448.5:n.421-49_421-48insCTTTGGGAGGCCGAGGGGGGAGGTG...
ENST00000261448.5:c.421-49_421-48insCTTTGGGAGGCCGAGGGGGGAGGTGGATCACCTGAGGTCAGT	ENSP00000261448.5:n.421-49_421-48insCTTTGGGAGGCCGAGGGGGGAGGTG...
NM_001232.3:c.421-49_421-48insCTTTGGGAGGCCGAGGGGGGAGGTGGATCACCTGAGGTCAGT , LRG_404t1:c.421-49_421-48insCTTTGGGAGGCCGAGGGGGGAGGTGGATCACCTGAGGTCAGT	NP_001223.2:n.421-49_421-48insCTTTGGGAGGCCGAGGGGGGAGGTGGATCAC...
NM_001232.4:c.421-49_421-48insCTTTGGGAGGCCGAGGGGGGAGGTGGATCACCTGAGGTCAGT MANE Select	NP_001223.2:n.421-49_421-48insCTTTGGGAGGCCGAGGGGGGAGGTGGATCAC...