Allele Registry

Canonical Allele Identifier: CA11158228

Gene:

Linked Data - Expert Curation

COSMIC:

COSN6672224 (not active)

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr2:g.105221141T>C

GRCh37 chr2:g.105837598T>C

Linked Data - Sequence & Population

gnomAD v2:

2:105837598 T / C

gnomAD v3:

2:105221141 T / C

gnomAD v4:

chr2-105221141-T-C

Joint Max Group AF 0.42436587 (MID)

Genomes Max Group AF 0.33064654 (AMR)

Linked Data - NCBI & NCI

dbSNP:

6712932

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.105221141T>C , CM000664.2:g.105221141T>C	GRCh38
NC_000002.11:g.105837598T>C , CM000664.1:g.105837598T>C	GRCh37
NC_000002.10:g.105204030T>C	NCBI36

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