Canonical Allele Identifier: CA534638457

Gene:

Linked Data

• dbSNP Id: rs1252531314
• gnomAD v2: 2-88315874-GCAGGTGCACCGTTTCTGGAAGTACTGCAATACCAAAT-G
• gnomAD v3: 2-88016355-GCAGGTGCACCGTTTCTGGAAGTACTGCAATACCAAAT-G
• gnomAD v4: 2-88016355-GCAGGTGCACCGTTTCTGGAAGTACTGCAATACCAAAT-G
• MyVariant Identifiers: chr2:g.88315875_88315911del (hg19) ; chr2:g.88016356_88016392del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88016357_88016393del , CM000664.2:g.88016357_88016393del	GRCh38
NC_000002.11:g.88315876_88315912del , CM000664.1:g.88315876_88315912del	GRCh37
NC_000002.10:g.88096991_88097027del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_940335.3:n.702_738del
XR_940336.3:n.702_738del