Canonical Allele Identifier: CA379265583

Gene: HBG2

Linked Data

• gnomAD v4: 11-5254737-G-A
• MyVariant Identifiers: chr11:g.5275967G>A (hg19) ; chr11:g.5254737G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254737G>A , CM000673.2:g.5254737G>A	GRCh38
NC_000011.9:g.5275967G>A , CM000673.1:g.5275967G>A	GRCh37
NC_000011.8:g.5232543G>A	NCBI36
NG_000007.3:g.42879C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.-9C>T MANE Select	ENSP00000338082.4:n.-9C>T
ENST00000380252.6:c.-73-223C>T	ENSP00000369602.2:n.-73-223C>T
ENST00000380259.7:c.1538C>T	ENSP00000369609.3:n.1538C>T
ENST00000642908.1:c.-9C>T	ENSP00000495346.1:n.-9C>T
ENST00000647543.1:c.-9C>T	ENSP00000496470.1:n.-9C>T
ENST00000336906.4:c.-9C>T	ENSP00000338082.4:n.-9C>T
ENST00000380252.5:c.63-223C>T	ENSP00000369602.1:n.63-223C>T
ENST00000380259.6:c.-9C>T	ENSP00000369609.2:n.-9C>T
ENST00000444587.1:c.-9C>T	ENSP00000488218.1:n.-9C>T
ENST00000620888.4:c.-9C>T	ENSP00000479637.1:n.-9C>T
ENST00000624109.1:c.366G>A	ENSP00000485458.1:p.Trp122Ter
NM_000184.2:c.-9C>T	NP_000175.1:n.-9C>T
NM_000184.3:c.-9C>T MANE Select	NP_000175.1:n.-9C>T