Canonical Allele Identifier: CA379264574

Gene: HBG2

Linked Data

• ClinVar Variation Id: 2229352
• ClinVar RCV Id: RCV004091464
• dbSNP Id: rs1381209734
• gnomAD v2: 11-5275703-C-T
• gnomAD v3: 11-5254473-C-T
• gnomAD v4: 11-5254473-C-T
• MyVariant Identifiers: chr11:g.5275703C>T (hg19) ; chr11:g.5254473C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254473C>T , CM000673.2:g.5254473C>T	GRCh38
NC_000011.9:g.5275703C>T , CM000673.1:g.5275703C>T	GRCh37
NC_000011.8:g.5232279C>T	NCBI36
NG_000007.3:g.43143G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.134G>A MANE Select	ENSP00000338082.4:p.Ser45Asn
ENST00000380252.6:c.-32G>A	ENSP00000369602.2:n.-32G>A
ENST00000380259.7:c.1680G>A	ENSP00000369609.3:n.1680G>A
ENST00000642908.1:c.134G>A	ENSP00000495346.1:p.Ser45Asn
ENST00000647543.1:c.134G>A	ENSP00000496470.1:p.Ser45Asn
ENST00000336906.4:c.134G>A	ENSP00000338082.4:p.Ser45Asn
ENST00000380252.5:c.104G>A	ENSP00000369602.1:p.Ser35Asn
ENST00000380259.6:c.134G>A	ENSP00000369609.2:p.Ser45Asn
ENST00000444587.1:c.*3G>A	ENSP00000488218.1:n.*3G>A
ENST00000620888.4:c.134G>A	ENSP00000479637.1:p.Ser45Asn
ENST00000624109.1:c.221C>T	ENSP00000485458.1:p.Ala74Val
NM_000184.2:c.134G>A	NP_000175.1:p.Ser45Asn
NM_000184.3:c.134G>A MANE Select	NP_000175.1:p.Ser45Asn