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: CA64121891

Gene:

Linked Data

dbSNP Id: rs554368969

gnomAD v3: 2-198767887-G-C

gnomAD v4: 2-198767887-G-C

MyVariant Identifiers: chr2:g.199632611G>C (hg19) chr2:g.198767887G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.198767887G>C , CM000664.2:g.198767887G>C	GRCh38
NC_000002.11:g.199632611G>C , CM000664.1:g.199632611G>C	GRCh37
NC_000002.10:g.199340856G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_923758.1:n.72+4372C>G
XR_923759.1:n.72+4372C>G
XR_923760.1:n.72+4372C>G
XR_923759.2:n.72+4372C>G
XR_923760.2:n.72+4372C>G

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