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: CA54579262

Gene:

Linked Data

dbSNP Id: rs1054610398

gnomAD v3: 2-118079662-A-G

gnomAD v4: 2-118079662-A-G

MyVariant Identifiers: chr2:g.118837238A>G (hg19) chr2:g.118079662A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.118079662A>G , CM000664.2:g.118079662A>G	GRCh38
NC_000002.11:g.118837238A>G , CM000664.1:g.118837238A>G	GRCh37
NC_000002.10:g.118553708A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XM_011512305.1:c.697-2130T>C	XP_011510607.1:n.697-2130T>C
XR_001739662.2:n.138+8589T>C

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