ClinGen Allele Registry
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Canonical Allele Identifier:
CA63675554
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr2:g.203706326_203706327insC
GRCh37
chr2:g.204571049_204571050insC
Linked Data - Sequence & Population
gnomAD v2:
2:204571049 T / TC
gnomAD v3:
2:203706326 T / TC
gnomAD v4:
chr2-203706326-T-TC
Joint Max Group AF
0.02861753 (MID)
Genomes Max Group AF
0.01803198 (AFR)
Exomes Max Group AF
0.02829066 (MID)
Linked Data - NCBI & NCI
dbSNP:
56156157
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.203706330dup , CM000664.2:g.203706330dup
GRCh38
NC_000002.11:g.204571053dup , CM000664.1:g.204571053dup
GRCh37
NC_000002.10:g.204279298dup
NCBI36
NG_029618.1:g.4856dup
Search 100 bp 5'
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