Allele Registry

Canonical Allele Identifier: CA11122114

Gene:

Linked Data - Expert Curation

COSMIC:

COSN17132979 (not active)

COSN17136444 (not active)

COSN17139249 (not active)

COSN17142050 (not active)

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr2:g.104762499C>T

GRCh37 chr2:g.105378957C>T

Linked Data - Sequence & Population

gnomAD v2:

2:105378957 C / T

gnomAD v3:

2:104762499 C / T

gnomAD v4:

chr2-104762499-C-T

Joint Max Group AF 0.16966584 (AMR)

Genomes Max Group AF 0.16966584 (AMR)

Linked Data - NCBI & NCI

dbSNP:

12615966

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.104762499C>T , CM000664.2:g.104762499C>T	GRCh38
NC_000002.11:g.105378957C>T , CM000664.1:g.105378957C>T	GRCh37
NC_000002.10:g.104745389C>T	NCBI36

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