Canonical Allele Identifier: CA124538
Gene: HBG2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 14979
ClinVar RCV Id: RCV000016119
dbSNP Id: rs35885783

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5254504C>T , CM000673.2:g.5254504C>T GRCh38
NC_000011.9:g.5275734C>T , CM000673.1:g.5275734C>T GRCh37
NC_000011.8:g.5232310C>T NCBI36
NG_000007.3:g.43112G>A

Transcript Alleles

HGVS Amino-acid change
NM_000184.2:c.103G>A VV NP_000175.1:p.Val35Ile
NM_000184.3:c.103G>A VV MANE Preferred NP_000175.1:p.Val35Ile
ENST00000336906.4:c.103G>A ENSP00000338082.4:p.Val35Ile
ENST00000380252.5:c.73G>A ENSP00000369602.1:p.Val25Ile
ENST00000380259.6:c.103G>A ENSP00000369609.2:p.Val35Ile
ENST00000444587.1:c.65G>A ENSP00000488218.1:p.Cys22Tyr
ENST00000620888.4:c.103G>A ENSP00000479637.1:p.Val35Ile
ENST00000624109.1:n.252C>T ENSP00000485458.1:p.Asp84=