Canonical Allele Identifier: CA11070537
Gene:
MyVariant.info:
GRCh38 chr2:g.65440138C>A
GRCh37 chr2:g.65667272C>A
gnomAD v2:
2:65667272 C / A
gnomAD v3:
2:65440138 C / A
gnomAD v4:
chr2-65440138-C-A
Joint Max Group AF 0.88387062 (AFR)
Genomes Max Group AF 0.8838605 (AFR)
Exomes Max Group AF 0.63988155 (NFE)
dbSNP:
6740462
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.65440138C>A , CM000664.2:g.65440138C>A GRCh38
NC_000002.11:g.65667272C>A , CM000664.1:g.65667272C>A GRCh37
NC_000002.10:g.65520776C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940190.1:n.181+3256C>A
XR_940187.3:n.1439-53G>T
Search 100 bp 5'
Search 100 bp 3'