Canonical Allele Identifier: CA124546
Gene: HBG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 14985
ClinVar RCV Id: RCV000016125
dbSNP Id: rs281864891

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5254661T>A , CM000673.2:g.5254661T>A GRCh38
NC_000011.9:g.5275891T>A , CM000673.1:g.5275891T>A GRCh37
NC_000011.8:g.5232467T>A NCBI36
NG_000007.3:g.42955A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000336906.6:c.68A>T MANE Select ENSP00000338082.4:p.Asp23Val
ENST00000380252.6:c.-73-147A>T ENSP00000369602.2:n.-73-147A>T
ENST00000380259.7:c.1614A>T ENSP00000369609.3:n.1614A>T
ENST00000642908.1:c.68A>T ENSP00000495346.1:p.Asp23Val
ENST00000647543.1:c.68A>T ENSP00000496470.1:p.Asp23Val
ENST00000336906.4:c.68A>T ENSP00000338082.4:p.Asp23Val
ENST00000380252.5:c.63-147A>T ENSP00000369602.1:n.63-147A>T
ENST00000380259.6:c.68A>T ENSP00000369609.2:p.Asp23Val
ENST00000444587.1:c.54+14A>T ENSP00000488218.1:n.54+14A>T
ENST00000620888.4:c.68A>T ENSP00000479637.1:p.Asp23Val
ENST00000624109.1:c.290T>A ENSP00000485458.1:p.Ile97Asn
NM_000184.2:c.68A>T NP_000175.1:p.Asp23Val
NM_000184.3:c.68A>T MANE Select NP_000175.1:p.Asp23Val