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: CA763112164

Gene:

Linked Data

dbSNP Id: rs1487848567

gnomAD v3: 2-198767789-A-T

gnomAD v4: 2-198767789-A-T

MyVariant Identifiers: chr2:g.199632513A>T (hg19) chr2:g.198767789A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.198767789A>T , CM000664.2:g.198767789A>T	GRCh38
NC_000002.11:g.199632513A>T , CM000664.1:g.199632513A>T	GRCh37
NC_000002.10:g.199340758A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_923758.1:n.72+4470T>A
XR_923759.1:n.72+4470T>A
XR_923760.1:n.72+4470T>A
XR_923759.2:n.72+4470T>A
XR_923760.2:n.72+4470T>A

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