Canonical Allele Identifier: CA124562
Gene: HBG2 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.5254380A>G
GRCh37 chr11:g.5275610A>G
Revel Score:
ENST00000380252 0.641
ENST00000380259 0.641
ENST00000336906 (MANE Select) 0.641
ENST00000380247 0.641
gnomAD v2:
11:5275610 A / G
gnomAD v3:
11:5254380 A / G
gnomAD v4:
chr11-5254380-A-G
Joint Max Group AF 0.00001772 (EAS)
Genomes Max Group AF 0.00003761 (NFE)
Exomes Max Group AF 0.00002004 (EAS)
ClinVar RCV:
RCV000016134
RCV000030902
ClinVar Variation:
14994
dbSNP:
104894225
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5254380A>G , CM000673.2:g.5254380A>G GRCh38
NC_000011.9:g.5275610A>G , CM000673.1:g.5275610A>G GRCh37
NC_000011.8:g.5232186A>G NCBI36
NG_000007.3:g.43236T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000336906.6:c.227T>C MANE Select ENSP00000338082.4:p.Ile76Thr
ENST00000380252.6:c.62T>C ENSP00000369602.2:p.Ile21Thr
ENST00000642908.1:c.227T>C ENSP00000495346.1:p.Ile76Thr
ENST00000647543.1:c.227T>C ENSP00000496470.1:p.Ile76Thr
ENST00000336906.4:c.227T>C ENSP00000338082.4:p.Ile76Thr
ENST00000380252.5:c.197T>C ENSP00000369602.1:p.Ile66Thr
ENST00000380259.6:c.227T>C ENSP00000369609.2:p.Ile76Thr
ENST00000444587.1:c.*96T>C ENSP00000488218.1:n.*96T>C
ENST00000620888.4:c.227T>C ENSP00000479637.1:p.Ile76Thr
ENST00000624109.1:c.128A>G ENSP00000485458.1:p.Tyr43Cys
NM_000184.2:c.227T>C NP_000175.1:p.Ile76Thr
NM_000184.3:c.227T>C MANE Select NP_000175.1:p.Ile76Thr
Search 100 bp 5'
Search 100 bp 3'