Canonical Allele Identifier: CA124520
Gene: HBG2 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.5253368T>C
GRCh37 chr11:g.5274598T>C
Revel Score:
ENST00000380252 0.492
ENST00000380259 0.492
ENST00000336906 (MANE Select) 0.492
ENST00000380247 0.492
gnomAD v2:
11:5274598 T / C
gnomAD v4:
chr11-5253368-T-C
Joint Max Group AF 7.9e-7 (NFE)
Exomes Max Group AF 8.4e-7 (NFE)
ClinVar RCV:
RCV000016110
ClinVar Variation:
14970
dbSNP:
36049074
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5253368T>C , CM000673.2:g.5253368T>C GRCh38
NC_000011.9:g.5274598T>C , CM000673.1:g.5274598T>C GRCh37
NC_000011.8:g.5231174T>C NCBI36
NG_000007.3:g.44248A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000336906.6:c.353A>G MANE Select ENSP00000338082.4:p.His118Arg
ENST00000380252.6:c.188A>G ENSP00000369602.2:p.His63Arg
ENST00000642908.1:c.315+924A>G ENSP00000495346.1:n.315+924A>G
ENST00000647543.1:c.353A>G ENSP00000496470.1:p.His118Arg
ENST00000336906.4:c.353A>G ENSP00000338082.4:p.His118Arg
ENST00000380252.5:c.323A>G ENSP00000369602.1:p.His108Arg
ENST00000380259.6:c.353A>G ENSP00000369609.2:p.His118Arg
ENST00000620888.4:c.315+924A>G ENSP00000479637.1:n.315+924A>G
ENST00000624109.1:c.2T>C ENSP00000485458.1:p.Met1Thr
NM_000184.2:c.353A>G NP_000175.1:p.His118Arg
NM_000184.3:c.353A>G MANE Select NP_000175.1:p.His118Arg
Search 100 bp 5'
Search 100 bp 3'