Canonical Allele Identifier: CA534638443
Gene:

Linked Data

dbSNP Id: rs1420049176
gnomAD v2: 2-88315818-G-GAAAC
gnomAD v3: 2-88016299-G-GAAAC
gnomAD v4: 2-88016299-G-GAAAC
MyVariant Identifiers: chr2:g.88315818_88315819insAAAC (hg19) chr2:g.88016299_88016300insAAAC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88016301_88016302insACAA , CM000664.2:g.88016301_88016302insACAA GRCh38
NC_000002.11:g.88315820_88315821insACAA , CM000664.1:g.88315820_88315821insACAA GRCh37
NC_000002.10:g.88096935_88096936insACAA NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940335.3:n.646_647insACAA
XR_940336.3:n.646_647insACAA
Search 100 bp 5'
Search 100 bp 3'