Canonical Allele Identifier: CA51878317

Gene:

Linked Data

• dbSNP Id: rs531922482
• gnomAD v2: 2-88315767-A-AACTGCTAGCATACCTGT
• gnomAD v3: 2-88016248-A-AACTGCTAGCATACCTGT
• gnomAD v4: 2-88016248-A-AACTGCTAGCATACCTGT
• MyVariant Identifiers: chr2:g.88315767_88315768insACTGCTAGCATACCTGT (hg19) ; chr2:g.88016248_88016249insACTGCTAGCATACCTGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88016249_88016265dup , CM000664.2:g.88016249_88016265dup	GRCh38
NC_000002.11:g.88315768_88315784dup , CM000664.1:g.88315768_88315784dup	GRCh37
NC_000002.10:g.88096883_88096899dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_940335.3:n.594_610dup
XR_940336.3:n.594_610dup