Canonical Allele Identifier: CA379264254

Gene: HBG2

Linked Data

• gnomAD v4: 11-5254360-T-G
• MyVariant Identifiers: chr11:g.5275590T>G (hg19) ; chr11:g.5254360T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254360T>G , CM000673.2:g.5254360T>G	GRCh38
NC_000011.9:g.5275590T>G , CM000673.1:g.5275590T>G	GRCh37
NC_000011.8:g.5232166T>G	NCBI36
NG_000007.3:g.43256A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.247A>C MANE Select	ENSP00000338082.4:p.Lys83Gln
ENST00000380252.6:c.82A>C	ENSP00000369602.2:p.Lys28Gln
ENST00000642908.1:c.247A>C	ENSP00000495346.1:p.Lys83Gln
ENST00000647543.1:c.247A>C	ENSP00000496470.1:p.Lys83Gln
ENST00000336906.4:c.247A>C	ENSP00000338082.4:p.Lys83Gln
ENST00000380252.5:c.217A>C	ENSP00000369602.1:p.Lys73Gln
ENST00000380259.6:c.247A>C	ENSP00000369609.2:p.Lys83Gln
ENST00000444587.1:c.*116A>C	ENSP00000488218.1:n.*116A>C
ENST00000620888.4:c.247A>C	ENSP00000479637.1:p.Lys83Gln
ENST00000624109.1:c.108T>G	ENSP00000485458.1:p.Leu36=
NM_000184.2:c.247A>C	NP_000175.1:p.Lys83Gln
NM_000184.3:c.247A>C MANE Select	NP_000175.1:p.Lys83Gln