Canonical Allele Identifier: CA217121081

Gene: HBG2

Linked Data

• dbSNP Id: rs909053977
• gnomAD v2: 11-5275422-C-G
• gnomAD v3: 11-5254192-C-G
• gnomAD v4: 11-5254192-C-G
• MyVariant Identifiers: chr11:g.5275422C>G (hg19) ; chr11:g.5254192C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254192C>G , CM000673.2:g.5254192C>G	GRCh38
NC_000011.9:g.5275422C>G , CM000673.1:g.5275422C>G	GRCh37
NC_000011.8:g.5231998C>G	NCBI36
NG_000007.3:g.43424G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000336906.6:c.315+100G>C MANE Select	ENSP00000338082.4:n.315+100G>C
ENST00000380252.6:c.150+100G>C	ENSP00000369602.2:n.150+100G>C
ENST00000642908.1:c.315+100G>C	ENSP00000495346.1:n.315+100G>C
ENST00000647543.1:c.315+100G>C	ENSP00000496470.1:n.315+100G>C
ENST00000336906.4:c.315+100G>C	ENSP00000338082.4:n.315+100G>C
ENST00000380252.5:c.285+100G>C	ENSP00000369602.1:n.285+100G>C
ENST00000380259.6:c.315+100G>C	ENSP00000369609.2:n.315+100G>C
ENST00000444587.1:c.*184+100G>C	ENSP00000488218.1:n.*184+100G>C
ENST00000620888.4:c.315+100G>C	ENSP00000479637.1:n.315+100G>C
ENST00000624109.1:c.43-103C>G	ENSP00000485458.1:n.43-103C>G
NM_000184.2:c.315+100G>C	NP_000175.1:n.315+100G>C
NM_000184.3:c.315+100G>C MANE Select	NP_000175.1:n.315+100G>C