Canonical Allele Identifier: CA11958799
Gene: IRX2 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.2724248T>C
GRCh37 chr5:g.2724362T>C
gnomAD v2:
5:2724362 T / C
gnomAD v3:
5:2724248 T / C
gnomAD v4:
chr5-2724248-T-C
Joint Max Group AF 0.53970083 (AFR)
Genomes Max Group AF 0.53970083 (AFR)
dbSNP:
2173226
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.2724248T>C , CM000667.2:g.2724248T>C GRCh38
NC_000005.9:g.2724362T>C , CM000667.1:g.2724362T>C GRCh37
NC_000005.8:g.2777362T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001742016.1:n.1838-2628A>G
Search 100 bp 5'
Search 100 bp 3'