Canonical Allele Identifier: CA124544
Gene: HBG2 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.5254956A>G
GRCh37 chr11:g.5276186A>G
gnomAD v3:
11:5254956 A / G
gnomAD v4:
chr11-5254956-A-G
Joint Max Group AF 0.00000616 (AFR)
Exomes Max Group AF 0.00002868 (AFR)
ClinVar RCV:
RCV001814961
ClinVar Variation:
14983
dbSNP:
63750654
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5254956A>G , CM000673.2:g.5254956A>G GRCh38
NC_000011.9:g.5276186A>G , CM000673.1:g.5276186A>G GRCh37
NC_000011.8:g.5232762A>G NCBI36
NG_000007.3:g.42660T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380252.6:c.-73-442T>C ENSP00000369602.2:n.-73-442T>C
ENST00000380259.7:c.1319T>C ENSP00000369609.3:n.1319T>C
ENST00000643199.1:n.1262T>C
ENST00000646569.1:n.489T>C
ENST00000380252.5:c.63-442T>C ENSP00000369602.1:n.63-442T>C
ENST00000380259.6:c.-228T>C ENSP00000369609.2:n.-228T>C
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