ClinGen Allele Registry
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Canonical Allele Identifier:
CA11014345
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr2:g.57867738A>C
GRCh37
chr2:g.58094873A>C
Linked Data - Sequence & Population
gnomAD v2:
2:58094873 A / C
gnomAD v3:
2:57867738 A / C
gnomAD v4:
chr2-57867738-A-C
Joint Max Group AF
0.91009737 (AFR)
Genomes Max Group AF
0.91009737 (AFR)
Linked Data - NCBI & NCI
dbSNP:
2717068
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.57867738A>C , CM000664.2:g.57867738A>C
GRCh38
NC_000002.11:g.58094873A>C , CM000664.1:g.58094873A>C
GRCh37
NC_000002.10:g.57948377A>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_940116.1:n.67+18438T>G
Search 100 bp 5'
Search 100 bp 3'