Canonical Allele Identifier: CA379265682

Gene: HBG2

Linked Data

• gnomAD v4: 11-5254754-T-G
• MyVariant Identifiers: chr11:g.5275984T>G (hg19) ; chr11:g.5254754T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254754T>G , CM000673.2:g.5254754T>G	GRCh38
NC_000011.9:g.5275984T>G , CM000673.1:g.5275984T>G	GRCh37
NC_000011.8:g.5232560T>G	NCBI36
NG_000007.3:g.42862A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.-26A>C MANE Select	ENSP00000338082.4:n.-26A>C
ENST00000380252.6:c.-73-240A>C	ENSP00000369602.2:n.-73-240A>C
ENST00000380259.7:c.1521A>C	ENSP00000369609.3:n.1521A>C
ENST00000642908.1:c.-26A>C	ENSP00000495346.1:n.-26A>C
ENST00000647543.1:c.-26A>C	ENSP00000496470.1:n.-26A>C
ENST00000336906.4:c.-26A>C	ENSP00000338082.4:n.-26A>C
ENST00000380252.5:c.63-240A>C	ENSP00000369602.1:n.63-240A>C
ENST00000380259.6:c.-26A>C	ENSP00000369609.2:n.-26A>C
ENST00000620888.4:c.-26A>C	ENSP00000479637.1:n.-26A>C
ENST00000624109.1:c.383T>G	ENSP00000485458.1:p.Ile128Arg
NM_000184.2:c.-26A>C	NP_000175.1:n.-26A>C
NM_000184.3:c.-26A>C MANE Select	NP_000175.1:n.-26A>C