Canonical Allele Identifier: CA66271829
Gene:
dbSNP:
10209697
gnomAD v2:
2:222549197 G / A
gnomAD v3:
2:221684477 G / A
gnomAD v4:
chr2-221684477-G-A
Joint Max Group AF 0.17224843 (AFR)
Genomes Max Group AF 0.17224843 (AFR)
MyVariant.info:
GRCh38 chr2:g.221684477G>A
GRCh37 chr2:g.222549197G>A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.221684477G>A , CM000664.2:g.221684477G>A GRCh38
NC_000002.11:g.222549197G>A , CM000664.1:g.222549197G>A GRCh37
NC_000002.10:g.222257441G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_923941.1:n.320+897G>A
XR_923942.1:n.320+897G>A
XR_923943.1:n.357+897G>A
XR_001739234.1:n.357+897G>A
XR_001739235.1:n.320+897G>A
Search 100 bp 5'
Search 100 bp 3'