ClinGen Allele Registry
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Canonical Allele Identifier:
CA11127226
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr2:g.134454758G>T
GRCh37
chr2:g.135212329G>T
Linked Data - Sequence & Population
gnomAD v2:
2:135212329 G / T
gnomAD v3:
2:134454758 G / T
gnomAD v4:
chr2-134454758-G-T
Joint Max Group AF
0.95005404 (EAS)
Genomes Max Group AF
0.95005404 (EAS)
Exomes Max Group AF
0.31473671 (NFE)
Linked Data - NCBI & NCI
dbSNP:
539588
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.134454758G>T , CM000664.2:g.134454758G>T
GRCh38
NC_000002.11:g.135212329G>T , CM000664.1:g.135212329G>T
GRCh37
NC_000002.10:g.134928799G>T
NCBI36
NG_030324.1:g.205500G>T
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