Canonical Allele Identifier: CA5840249

Gene: HBG2

Linked Data

• dbSNP Id: rs760159470
• ExAC: 11:5275511 C / T
• gnomAD v2: 11-5275511-C-T
• gnomAD v3: 11-5254281-C-T
• gnomAD v4: 11-5254281-C-T
• MyVariant Identifiers: chr11:g.5275511C>T (hg19) ; chr11:g.5254281C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254281C>T , CM000673.2:g.5254281C>T	GRCh38
NC_000011.9:g.5275511C>T , CM000673.1:g.5275511C>T	GRCh37
NC_000011.8:g.5232087C>T	NCBI36
NG_000007.3:g.43335G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000336906.6:c.315+11G>A MANE Select	ENSP00000338082.4:n.315+11G>A
ENST00000380252.6:c.150+11G>A	ENSP00000369602.2:n.150+11G>A
ENST00000642908.1:c.315+11G>A	ENSP00000495346.1:n.315+11G>A
ENST00000647543.1:c.315+11G>A	ENSP00000496470.1:n.315+11G>A
ENST00000336906.4:c.315+11G>A	ENSP00000338082.4:n.315+11G>A
ENST00000380252.5:c.285+11G>A	ENSP00000369602.1:n.285+11G>A
ENST00000380259.6:c.315+11G>A	ENSP00000369609.2:n.315+11G>A
ENST00000444587.1:c.*184+11G>A	ENSP00000488218.1:n.*184+11G>A
ENST00000620888.4:c.315+11G>A	ENSP00000479637.1:n.315+11G>A
ENST00000624109.1:c.43-14C>T	ENSP00000485458.1:n.43-14C>T
NM_000184.2:c.315+11G>A	NP_000175.1:n.315+11G>A
NM_000184.3:c.315+11G>A MANE Select	NP_000175.1:n.315+11G>A