Canonical Allele Identifier: CA5840296
Gene: HBG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1685226
ClinVar RCV Id: RCV002248953
dbSNP Id: rs63751196
gnomAD v2: 11-5275897-A-G
gnomAD v3: 11-5254667-A-G
gnomAD v4: 11-5254667-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5254667A>G , CM000673.2:g.5254667A>G GRCh38
NC_000011.9:g.5275897A>G , CM000673.1:g.5275897A>G GRCh37
NC_000011.8:g.5232473A>G NCBI36
NG_000007.3:g.42949T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000336906.6:c.62T>C MANE Select ENSP00000338082.4:p.Val21Ala
ENST00000380252.6:c.-73-153T>C ENSP00000369602.2:n.-73-153T>C
ENST00000380259.7:c.1608T>C ENSP00000369609.3:n.1608T>C
ENST00000642908.1:c.62T>C ENSP00000495346.1:p.Val21Ala
ENST00000647543.1:c.62T>C ENSP00000496470.1:p.Val21Ala
ENST00000336906.4:c.62T>C ENSP00000338082.4:p.Val21Ala
ENST00000380252.5:c.63-153T>C ENSP00000369602.1:n.63-153T>C
ENST00000380259.6:c.62T>C ENSP00000369609.2:p.Val21Ala
ENST00000444587.1:c.54+8T>C ENSP00000488218.1:n.54+8T>C
ENST00000620888.4:c.62T>C ENSP00000479637.1:p.Val21Ala
ENST00000624109.1:c.296A>G ENSP00000485458.1:p.His99Arg
NM_000184.2:c.62T>C NP_000175.1:p.Val21Ala
NM_000184.3:c.62T>C MANE Select NP_000175.1:p.Val21Ala