Canonical Allele Identifier: CA124494

Gene: HBG2

Linked Data

• ClinVar Variation Id: 14957
• ClinVar RCV Id: RCV000016097
• dbSNP Id: rs35521813
• ExAC: 11:5275934 T / G
• gnomAD v2: 11-5275934-T-G
• gnomAD v3: 11-5254704-T-G
• gnomAD v4: 11-5254704-T-G
• MyVariant Identifiers: chr11:g.5275934T>G (hg19) ; chr11:g.5254704T>G (hg38)
• PubMed: PMID:2459082

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254704T>G , CM000673.2:g.5254704T>G	GRCh38
NC_000011.9:g.5275934T>G , CM000673.1:g.5275934T>G	GRCh37
NC_000011.8:g.5232510T>G	NCBI36
NG_000007.3:g.42912A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.25A>C MANE Select	ENSP00000338082.4:p.Lys9Gln
ENST00000380252.6:c.-73-190A>C	ENSP00000369602.2:n.-73-190A>C
ENST00000380259.7:c.1571A>C	ENSP00000369609.3:n.1571A>C
ENST00000642908.1:c.25A>C	ENSP00000495346.1:p.Lys9Gln
ENST00000647543.1:c.25A>C	ENSP00000496470.1:p.Lys9Gln
ENST00000336906.4:c.25A>C	ENSP00000338082.4:p.Lys9Gln
ENST00000380252.5:c.63-190A>C	ENSP00000369602.1:n.63-190A>C
ENST00000380259.6:c.25A>C	ENSP00000369609.2:p.Lys9Gln
ENST00000444587.1:c.25A>C	ENSP00000488218.1:p.Lys9Gln
ENST00000620888.4:c.25A>C	ENSP00000479637.1:p.Lys9Gln
ENST00000624109.1:c.333T>G	ENSP00000485458.1:p.Leu111=
NM_000184.2:c.25A>C	NP_000175.1:p.Lys9Gln
NM_000184.3:c.25A>C MANE Select	NP_000175.1:p.Lys9Gln