Canonical Allele Identifier: CA5840180

Gene: HBG2

Linked Data

• dbSNP Id: rs575079820
• ExAC: 11:5274446 T / C
• gnomAD v2: 11-5274446-T-C
• gnomAD v3: 11-5253216-T-C
• gnomAD v4: 11-5253216-T-C
• MyVariant Identifiers: chr11:g.5274446T>C (hg19) ; chr11:g.5253216T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5253216T>C , CM000673.2:g.5253216T>C	GRCh38
NC_000011.9:g.5274446T>C , CM000673.1:g.5274446T>C	GRCh37
NC_000011.8:g.5231022T>C	NCBI36
NG_000007.3:g.44400A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000336906.6:c.*61A>G MANE Select	ENSP00000338082.4:n.*61A>G
ENST00000380252.6:c.*61A>G	ENSP00000369602.2:n.*61A>G
ENST00000642908.1:c.315+1076A>G	ENSP00000495346.1:n.315+1076A>G
ENST00000647543.1:c.378+127A>G	ENSP00000496470.1:n.378+127A>G
ENST00000336906.4:c.*61A>G	ENSP00000338082.4:n.*61A>G
ENST00000380252.5:c.*61A>G	ENSP00000369602.1:n.*61A>G
ENST00000380259.6:c.*61A>G	ENSP00000369609.2:n.*61A>G
ENST00000620888.4:c.315+1076A>G	ENSP00000479637.1:n.315+1076A>G
NM_000184.2:c.*61A>G	NP_000175.1:n.*61A>G
NM_000184.3:c.*61A>G MANE Select	NP_000175.1:n.*61A>G