Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: CA539782392

Gene:

Linked Data

dbSNP Id: rs1309890593

gnomAD v2: 2-217481252-GCA-G

gnomAD v3: 2-216616529-GCA-G

gnomAD v4: 2-216616529-GCA-G

MyVariant Identifiers: chr2:g.217481253_217481254del (hg19) chr2:g.216616530_216616531del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216616532_216616533del , CM000664.2:g.216616532_216616533del	GRCh38
NC_000002.11:g.217481255_217481256del , CM000664.1:g.217481255_217481256del	GRCh37
NC_000002.10:g.217189500_217189501del	NCBI36

Search 100 bp 5'

Search 100 bp 3'