Canonical Allele Identifier: CA5840183

Gene: HBG2

Linked Data

• dbSNP Id: rs777041659
• ExAC: 11:5274456 GC / G
• gnomAD v2: 11-5274456-GC-G
• gnomAD v4: 11-5253226-GC-G
• MyVariant Identifiers: chr11:g.5274457del (hg19) ; chr11:g.5253227del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5253227del , CM000673.2:g.5253227del	GRCh38
NC_000011.9:g.5274457del , CM000673.1:g.5274457del	GRCh37
NC_000011.8:g.5231033del	NCBI36
NG_000007.3:g.44389del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.*50del MANE Select	ENSP00000338082.4:n.*50del
ENST00000380252.6:c.*50del	ENSP00000369602.2:n.*50del
ENST00000642908.1:c.315+1065del	ENSP00000495346.1:n.315+1065del
ENST00000647543.1:c.378+116del	ENSP00000496470.1:n.378+116del
ENST00000336906.4:c.*50del	ENSP00000338082.4:n.*50del
ENST00000380252.5:c.*50del	ENSP00000369602.1:n.*50del
ENST00000380259.6:c.*50del	ENSP00000369609.2:n.*50del
ENST00000620888.4:c.315+1065del	ENSP00000479637.1:n.315+1065del
NM_000184.2:c.*50del	NP_000175.1:n.*50del
NM_000184.3:c.*50del MANE Select	NP_000175.1:n.*50del