Canonical Allele Identifier: CA597208409

Gene: HBG2

Linked Data

• dbSNP Id: rs1166548715
• gnomAD v2: 11-5275406-C-A
• gnomAD v3: 11-5254176-C-A
• gnomAD v4: 11-5254176-C-A
• MyVariant Identifiers: chr11:g.5275406C>A (hg19) ; chr11:g.5254176C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254176C>A , CM000673.2:g.5254176C>A	GRCh38
NC_000011.9:g.5275406C>A , CM000673.1:g.5275406C>A	GRCh37
NC_000011.8:g.5231982C>A	NCBI36
NG_000007.3:g.43440G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.315+116G>T MANE Select	ENSP00000338082.4:n.315+116G>T
ENST00000380252.6:c.150+116G>T	ENSP00000369602.2:n.150+116G>T
ENST00000642908.1:c.315+116G>T	ENSP00000495346.1:n.315+116G>T
ENST00000647543.1:c.315+116G>T	ENSP00000496470.1:n.315+116G>T
ENST00000336906.4:c.315+116G>T	ENSP00000338082.4:n.315+116G>T
ENST00000380252.5:c.285+116G>T	ENSP00000369602.1:n.285+116G>T
ENST00000380259.6:c.315+116G>T	ENSP00000369609.2:n.315+116G>T
ENST00000444587.1:c.*184+116G>T	ENSP00000488218.1:n.*184+116G>T
ENST00000620888.4:c.315+116G>T	ENSP00000479637.1:n.315+116G>T
ENST00000624109.1:c.43-119C>A	ENSP00000485458.1:n.43-119C>A
NM_000184.2:c.315+116G>T	NP_000175.1:n.315+116G>T
NM_000184.3:c.315+116G>T MANE Select	NP_000175.1:n.315+116G>T