ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA11045293
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr2:g.218162165G>A
GRCh37
chr2:g.219026888G>A
Linked Data - Sequence & Population
gnomAD v2:
2:219026888 G / A
gnomAD v3:
2:218162165 G / A
gnomAD v4:
chr2-218162165-G-A
Joint Max Group AF
0.55194153 (MID)
Genomes Max Group AF
0.46021303 (AFR)
Linked Data - NCBI & NCI
dbSNP:
1008563
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.218162165G>A , CM000664.2:g.218162165G>A
GRCh38
NC_000002.11:g.219026888G>A , CM000664.1:g.219026888G>A
GRCh37
NC_000002.10:g.218735133G>A
NCBI36
NG_011814.1:g.9829C>T
Search 100 bp 5'
Search 100 bp 3'