Canonical Allele Identifier: CA379264323

Gene: HBG2

Linked Data

• gnomAD v4: 11-5254387-C-G
• MyVariant Identifiers: chr11:g.5275617C>G (hg19) ; chr11:g.5254387C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254387C>G , CM000673.2:g.5254387C>G	GRCh38
NC_000011.9:g.5275617C>G , CM000673.1:g.5275617C>G	GRCh37
NC_000011.8:g.5232193C>G	NCBI36
NG_000007.3:g.43229G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000336906.6:c.220G>C MANE Select	ENSP00000338082.4:p.Asp74His
ENST00000380252.6:c.55G>C	ENSP00000369602.2:p.Asp19His
ENST00000642908.1:c.220G>C	ENSP00000495346.1:p.Asp74His
ENST00000647543.1:c.220G>C	ENSP00000496470.1:p.Asp74His
ENST00000336906.4:c.220G>C	ENSP00000338082.4:p.Asp74His
ENST00000380252.5:c.190G>C	ENSP00000369602.1:p.Asp64His
ENST00000380259.6:c.220G>C	ENSP00000369609.2:p.Asp74His
ENST00000444587.1:c.*89G>C	ENSP00000488218.1:n.*89G>C
ENST00000620888.4:c.220G>C	ENSP00000479637.1:p.Asp74His
ENST00000624109.1:c.135C>G	ENSP00000485458.1:p.Ile45Met
NM_000184.2:c.220G>C	NP_000175.1:p.Asp74His
NM_000184.3:c.220G>C MANE Select	NP_000175.1:p.Asp74His