Canonical Allele Identifier: CA677771326

Gene: HBG2

Linked Data

• dbSNP Id: rs1390974131
• gnomAD v3: 11-5254193-T-G
• gnomAD v4: 11-5254193-T-G
• MyVariant Identifiers: chr11:g.5275423T>G (hg19) ; chr11:g.5254193T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254193T>G , CM000673.2:g.5254193T>G	GRCh38
NC_000011.9:g.5275423T>G , CM000673.1:g.5275423T>G	GRCh37
NC_000011.8:g.5231999T>G	NCBI36
NG_000007.3:g.43423A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000336906.6:c.315+99A>C MANE Select	ENSP00000338082.4:n.315+99A>C
ENST00000380252.6:c.150+99A>C	ENSP00000369602.2:n.150+99A>C
ENST00000642908.1:c.315+99A>C	ENSP00000495346.1:n.315+99A>C
ENST00000647543.1:c.315+99A>C	ENSP00000496470.1:n.315+99A>C
ENST00000336906.4:c.315+99A>C	ENSP00000338082.4:n.315+99A>C
ENST00000380252.5:c.285+99A>C	ENSP00000369602.1:n.285+99A>C
ENST00000380259.6:c.315+99A>C	ENSP00000369609.2:n.315+99A>C
ENST00000444587.1:c.*184+99A>C	ENSP00000488218.1:n.*184+99A>C
ENST00000620888.4:c.315+99A>C	ENSP00000479637.1:n.315+99A>C
ENST00000624109.1:c.43-102T>G	ENSP00000485458.1:n.43-102T>G
NM_000184.2:c.315+99A>C	NP_000175.1:n.315+99A>C
NM_000184.3:c.315+99A>C MANE Select	NP_000175.1:n.315+99A>C