Canonical Allele Identifier: CA379265619

Gene: HBG2

Linked Data

• gnomAD v4: 11-5254744-A-T
• MyVariant Identifiers: chr11:g.5275974A>T (hg19) ; chr11:g.5254744A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254744A>T , CM000673.2:g.5254744A>T	GRCh38
NC_000011.9:g.5275974A>T , CM000673.1:g.5275974A>T	GRCh37
NC_000011.8:g.5232550A>T	NCBI36
NG_000007.3:g.42872T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.-16T>A MANE Select	ENSP00000338082.4:n.-16T>A
ENST00000380252.6:c.-73-230T>A	ENSP00000369602.2:n.-73-230T>A
ENST00000380259.7:c.1531T>A	ENSP00000369609.3:n.1531T>A
ENST00000642908.1:c.-16T>A	ENSP00000495346.1:n.-16T>A
ENST00000647543.1:c.-16T>A	ENSP00000496470.1:n.-16T>A
ENST00000336906.4:c.-16T>A	ENSP00000338082.4:n.-16T>A
ENST00000380252.5:c.63-230T>A	ENSP00000369602.1:n.63-230T>A
ENST00000380259.6:c.-16T>A	ENSP00000369609.2:n.-16T>A
ENST00000620888.4:c.-16T>A	ENSP00000479637.1:n.-16T>A
ENST00000624109.1:c.373A>T	ENSP00000485458.1:p.Ser125Cys
NM_000184.2:c.-16T>A	NP_000175.1:n.-16T>A
NM_000184.3:c.-16T>A MANE Select	NP_000175.1:n.-16T>A