Canonical Allele Identifier: CA379265086

Gene: HBG2

Linked Data

• gnomAD v4: 11-5254662-C-A
• MyVariant Identifiers: chr11:g.5275892C>A (hg19) ; chr11:g.5254662C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254662C>A , CM000673.2:g.5254662C>A	GRCh38
NC_000011.9:g.5275892C>A , CM000673.1:g.5275892C>A	GRCh37
NC_000011.8:g.5232468C>A	NCBI36
NG_000007.3:g.42954G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.67G>T MANE Select	ENSP00000338082.4:p.Asp23Tyr
ENST00000380252.6:c.-73-148G>T	ENSP00000369602.2:n.-73-148G>T
ENST00000380259.7:c.1613G>T	ENSP00000369609.3:n.1613G>T
ENST00000642908.1:c.67G>T	ENSP00000495346.1:p.Asp23Tyr
ENST00000647543.1:c.67G>T	ENSP00000496470.1:p.Asp23Tyr
ENST00000336906.4:c.67G>T	ENSP00000338082.4:p.Asp23Tyr
ENST00000380252.5:c.63-148G>T	ENSP00000369602.1:n.63-148G>T
ENST00000380259.6:c.67G>T	ENSP00000369609.2:p.Asp23Tyr
ENST00000444587.1:c.54+13G>T	ENSP00000488218.1:n.54+13G>T
ENST00000620888.4:c.67G>T	ENSP00000479637.1:p.Asp23Tyr
ENST00000624109.1:c.291C>A	ENSP00000485458.1:p.Ile97=
NM_000184.2:c.67G>T	NP_000175.1:p.Asp23Tyr
NM_000184.3:c.67G>T MANE Select	NP_000175.1:p.Asp23Tyr