Canonical Allele Identifier: CA379264746

Gene: HBG2

Linked Data

• dbSNP Id: rs1313211217
• gnomAD v2: 11-5275730-T-C
• gnomAD v4: 11-5254500-T-C
• MyVariant Identifiers: chr11:g.5275730T>C (hg19) ; chr11:g.5254500T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254500T>C , CM000673.2:g.5254500T>C	GRCh38
NC_000011.9:g.5275730T>C , CM000673.1:g.5275730T>C	GRCh37
NC_000011.8:g.5232306T>C	NCBI36
NG_000007.3:g.43116A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.107A>G MANE Select	ENSP00000338082.4:p.Tyr36Cys
ENST00000380252.6:c.-59A>G	ENSP00000369602.2:n.-59A>G
ENST00000380259.7:c.1653A>G	ENSP00000369609.3:n.1653A>G
ENST00000642908.1:c.107A>G	ENSP00000495346.1:p.Tyr36Cys
ENST00000647543.1:c.107A>G	ENSP00000496470.1:p.Tyr36Cys
ENST00000336906.4:c.107A>G	ENSP00000338082.4:p.Tyr36Cys
ENST00000380252.5:c.77A>G	ENSP00000369602.1:p.Tyr26Cys
ENST00000380259.6:c.107A>G	ENSP00000369609.2:p.Tyr36Cys
ENST00000444587.1:c.69A>G	ENSP00000488218.1:p.Leu23=
ENST00000620888.4:c.107A>G	ENSP00000479637.1:p.Tyr36Cys
ENST00000624109.1:c.248T>C	ENSP00000485458.1:p.Val83Ala
NM_000184.2:c.107A>G	NP_000175.1:p.Tyr36Cys
NM_000184.3:c.107A>G MANE Select	NP_000175.1:p.Tyr36Cys