ClinGen Allele Registry
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Canonical Allele Identifier:
CA15203027
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr2:g.176127051A>G
GRCh37
chr2:g.176991779A>G
Linked Data - Sequence & Population
gnomAD v2:
2:176991779 A / G
gnomAD v3:
2:176127051 A / G
gnomAD v4:
chr2-176127051-A-G
Joint Max Group AF
0.80460701 (AFR)
Genomes Max Group AF
0.80460701 (AFR)
Linked Data - NCBI & NCI
dbSNP:
2592394
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.176127051A>G , CM000664.2:g.176127051A>G
GRCh38
NC_000002.11:g.176991779A>G , CM000664.1:g.176991779A>G
GRCh37
NC_000002.10:g.176700025A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_241351.3:n.2581T>C
Search 100 bp 5'
Search 100 bp 3'