Canonical Allele Identifier: CA379264357

Gene: HBG2

Linked Data

• dbSNP Id: rs1226055554
• gnomAD v2: 11-5275630-C-T
• gnomAD v4: 11-5254400-C-T
• MyVariant Identifiers: chr11:g.5275630C>T (hg19) ; chr11:g.5254400C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254400C>T , CM000673.2:g.5254400C>T	GRCh38
NC_000011.9:g.5275630C>T , CM000673.1:g.5275630C>T	GRCh37
NC_000011.8:g.5232206C>T	NCBI36
NG_000007.3:g.43216G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.207G>A MANE Select	ENSP00000338082.4:p.Leu69=
ENST00000380252.6:c.42G>A	ENSP00000369602.2:p.Leu14=
ENST00000380259.7:c.1753G>A	ENSP00000369609.3:n.1753G>A
ENST00000642908.1:c.207G>A	ENSP00000495346.1:p.Leu69=
ENST00000647543.1:c.207G>A	ENSP00000496470.1:p.Leu69=
ENST00000336906.4:c.207G>A	ENSP00000338082.4:p.Leu69=
ENST00000380252.5:c.177G>A	ENSP00000369602.1:p.Leu59=
ENST00000380259.6:c.207G>A	ENSP00000369609.2:p.Leu69=
ENST00000444587.1:c.*76G>A	ENSP00000488218.1:n.*76G>A
ENST00000620888.4:c.207G>A	ENSP00000479637.1:p.Leu69=
ENST00000624109.1:c.148C>T	ENSP00000485458.1:p.Gln50Ter
NM_000184.2:c.207G>A	NP_000175.1:p.Leu69=
NM_000184.3:c.207G>A MANE Select	NP_000175.1:p.Leu69=