Canonical Allele Identifier: CA51878368

Gene:

Linked Data

• dbSNP Id: rs56968277
• gnomAD v2: 2-88315870-GTTAGCAGGTGCACCGTTTCTGGAAGTACTGCAATACCAAAT-G
• gnomAD v3: 2-88016351-GTTAGCAGGTGCACCGTTTCTGGAAGTACTGCAATACCAAAT-G
• gnomAD v4: 2-88016351-GTTAGCAGGTGCACCGTTTCTGGAAGTACTGCAATACCAAAT-G
• MyVariant Identifiers: chr2:g.88315871_88315911del (hg19) ; chr2:g.88016352_88016392del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88016352_88016392del , CM000664.2:g.88016352_88016392del	GRCh38
NC_000002.11:g.88315871_88315911del , CM000664.1:g.88315871_88315911del	GRCh37
NC_000002.10:g.88096986_88097026del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_940335.3:n.697_737del
XR_940336.3:n.697_737del