Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA534498884

Gene:

Linked Data

dbSNP Id: rs1277055179

gnomAD v2: 2-88315665-CTCGTGGGCTCAAGCCATTTTCTTTCAAAAAG-C

gnomAD v3: 2-88016146-CTCGTGGGCTCAAGCCATTTTCTTTCAAAAAG-C

gnomAD v4: 2-88016146-CTCGTGGGCTCAAGCCATTTTCTTTCAAAAAG-C

MyVariant Identifiers: chr2:g.88315666_88315696del (hg19) chr2:g.88016147_88016177del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88016147_88016177del , CM000664.2:g.88016147_88016177del	GRCh38
NC_000002.11:g.88315666_88315696del , CM000664.1:g.88315666_88315696del	GRCh37
NC_000002.10:g.88096781_88096811del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_940335.3:n.492_522del
XR_940336.3:n.492_522del

Search 100 bp 5'

Search 100 bp 3'