Canonical Allele Identifier: CA379264292

Gene: HBG2

Linked Data

• MyVariant Identifiers: chr11:g.5275606C>T (hg19) ; chr11:g.5254376C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254376C>T , CM000673.2:g.5254376C>T	GRCh38
NC_000011.9:g.5275606C>T , CM000673.1:g.5275606C>T	GRCh37
NC_000011.8:g.5232182C>T	NCBI36
NG_000007.3:g.43240G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000336906.6:c.231G>A MANE Select	ENSP00000338082.4:p.Lys77=
ENST00000380252.6:c.66G>A	ENSP00000369602.2:p.Lys22=
ENST00000642908.1:c.231G>A	ENSP00000495346.1:p.Lys77=
ENST00000647543.1:c.231G>A	ENSP00000496470.1:p.Lys77=
ENST00000336906.4:c.231G>A	ENSP00000338082.4:p.Lys77=
ENST00000380252.5:c.201G>A	ENSP00000369602.1:p.Lys67=
ENST00000380259.6:c.231G>A	ENSP00000369609.2:p.Lys77=
ENST00000444587.1:c.*100G>A	ENSP00000488218.1:n.*100G>A
ENST00000620888.4:c.231G>A	ENSP00000479637.1:p.Lys77=
ENST00000624109.1:c.124C>T	ENSP00000485458.1:p.Leu42Phe
NM_000184.2:c.231G>A	NP_000175.1:p.Lys77=
NM_000184.3:c.231G>A MANE Select	NP_000175.1:p.Lys77=