ClinGen Allele Registry
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Canonical Allele Identifier:
CA43966199
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr2:g.21354871G>A
GRCh37
chr2:g.21577743G>A
Linked Data - Sequence & Population
gnomAD v2:
2:21577743 G / A
gnomAD v3:
2:21354871 G / A
gnomAD v4:
chr2-21354871-G-A
Joint Max Group AF
0.66200433 (AFR)
Genomes Max Group AF
0.66200433 (AFR)
Linked Data - NCBI & NCI
dbSNP:
219553
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.21354871G>A , CM000664.2:g.21354871G>A
GRCh38
NC_000002.11:g.21577743G>A , CM000664.1:g.21577743G>A
GRCh37
NC_000002.10:g.21431248G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_939801.2:n.1564-1706G>A
Search 100 bp 5'
Search 100 bp 3'