Canonical Allele Identifier: CA379264959

Gene: HBG2

Linked Data

• ClinVar Variation Id: 3075670
• ClinVar RCV Id: RCV004017187
• MyVariant Identifiers: chr11:g.5275873A>T (hg19) ; chr11:g.5254643A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254643A>T , CM000673.2:g.5254643A>T	GRCh38
NC_000011.9:g.5275873A>T , CM000673.1:g.5275873A>T	GRCh37
NC_000011.8:g.5232449A>T	NCBI36
NG_000007.3:g.42973T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.86T>A MANE Select	ENSP00000338082.4:p.Leu29Gln
ENST00000380252.6:c.-73-129T>A	ENSP00000369602.2:n.-73-129T>A
ENST00000380259.7:c.1632T>A	ENSP00000369609.3:n.1632T>A
ENST00000642908.1:c.86T>A	ENSP00000495346.1:p.Leu29Gln
ENST00000647543.1:c.86T>A	ENSP00000496470.1:p.Leu29Gln
ENST00000336906.4:c.86T>A	ENSP00000338082.4:p.Leu29Gln
ENST00000380252.5:c.63-129T>A	ENSP00000369602.1:n.63-129T>A
ENST00000380259.6:c.86T>A	ENSP00000369609.2:p.Leu29Gln
ENST00000444587.1:c.54+32T>A	ENSP00000488218.1:n.54+32T>A
ENST00000620888.4:c.86T>A	ENSP00000479637.1:p.Leu29Gln
ENST00000624109.1:c.272A>T	ENSP00000485458.1:p.Gln91Leu
NM_000184.2:c.86T>A	NP_000175.1:p.Leu29Gln
NM_000184.3:c.86T>A MANE Select	NP_000175.1:p.Leu29Gln