Canonical Allele Identifier: CA11221185
Gene:
MyVariant.info:
GRCh38 chr2:g.9109909C>A
GRCh37 chr2:g.9250038C>A
gnomAD v2:
2:9250038 C / A
gnomAD v3:
2:9109909 C / A
gnomAD v4:
chr2-9109909-C-A
Joint Max Group AF 0.47420797 (SAS)
Genomes Max Group AF 0.4742005 (SAS)
Exomes Max Group AF 0.12544939 (NFE)
dbSNP:
1109670
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.9109909C>A , CM000664.2:g.9109909C>A GRCh38
NC_000002.11:g.9250038C>A , CM000664.1:g.9250038C>A GRCh37
NC_000002.10:g.9167489C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_922764.1:n.91G>T
XR_922765.1:n.75+364G>T
Search 100 bp 5'
Search 100 bp 3'