Canonical Allele Identifier: CA379264118

Gene: HBG2

Linked Data

• dbSNP Id: rs1390999822
• gnomAD v2: 11-5275540-C-T
• gnomAD v4: 11-5254310-C-T
• MyVariant Identifiers: chr11:g.5275540C>T (hg19) ; chr11:g.5254310C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254310C>T , CM000673.2:g.5254310C>T	GRCh38
NC_000011.9:g.5275540C>T , CM000673.1:g.5275540C>T	GRCh37
NC_000011.8:g.5232116C>T	NCBI36
NG_000007.3:g.43306G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.297G>A MANE Select	ENSP00000338082.4:p.Val99=
ENST00000380252.6:c.132G>A	ENSP00000369602.2:p.Val44=
ENST00000642908.1:c.297G>A	ENSP00000495346.1:p.Val99=
ENST00000647543.1:c.297G>A	ENSP00000496470.1:p.Val99=
ENST00000336906.4:c.297G>A	ENSP00000338082.4:p.Val99=
ENST00000380252.5:c.267G>A	ENSP00000369602.1:p.Val89=
ENST00000380259.6:c.297G>A	ENSP00000369609.2:p.Val99=
ENST00000444587.1:c.*166G>A	ENSP00000488218.1:n.*166G>A
ENST00000620888.4:c.297G>A	ENSP00000479637.1:p.Val99=
ENST00000624109.1:c.58C>T	ENSP00000485458.1:p.His20Tyr
NM_000184.2:c.297G>A	NP_000175.1:p.Val99=
NM_000184.3:c.297G>A MANE Select	NP_000175.1:p.Val99=