Canonical Allele Identifier: CA677767680

Gene: HBG2

Linked Data

• dbSNP Id: rs35617911
• gnomAD v3: 11-5254983-G-T
• gnomAD v4: 11-5254983-G-T
• MyVariant Identifiers: chr11:g.5276213G>T (hg19) ; chr11:g.5254983G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254983G>T , CM000673.2:g.5254983G>T	GRCh38
NC_000011.9:g.5276213G>T , CM000673.1:g.5276213G>T	GRCh37
NC_000011.8:g.5232789G>T	NCBI36
NG_000007.3:g.42633C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000380252.6:c.-73-469C>A	ENSP00000369602.2:n.-73-469C>A
ENST00000380259.7:c.1292C>A	ENSP00000369609.3:n.1292C>A
ENST00000643199.1:n.1235C>A
ENST00000646569.1:n.462C>A
ENST00000380252.5:c.63-469C>A	ENSP00000369602.1:n.63-469C>A
ENST00000380259.6:c.-255C>A	ENSP00000369609.2:n.-255C>A