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: CA54579301

Gene:

Linked Data

dbSNP Id: rs969598235

gnomAD v3: 2-118079710-A-G

gnomAD v4: 2-118079710-A-G

MyVariant Identifiers: chr2:g.118837286A>G (hg19) chr2:g.118079710A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.118079710A>G , CM000664.2:g.118079710A>G	GRCh38
NC_000002.11:g.118837286A>G , CM000664.1:g.118837286A>G	GRCh37
NC_000002.10:g.118553756A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_011512305.1:c.697-2178T>C	XP_011510607.1:n.697-2178T>C
XR_001739662.2:n.138+8541T>C

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