Canonical Allele Identifier: CA379264794

Gene: HBG2

Linked Data

• dbSNP Id: rs1212676632
• gnomAD v2: 11-5275737-C-T
• gnomAD v4: 11-5254507-C-T
• MyVariant Identifiers: chr11:g.5275737C>T (hg19) ; chr11:g.5254507C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254507C>T , CM000673.2:g.5254507C>T	GRCh38
NC_000011.9:g.5275737C>T , CM000673.1:g.5275737C>T	GRCh37
NC_000011.8:g.5232313C>T	NCBI36
NG_000007.3:g.43109G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000336906.6:c.100G>A MANE Select	ENSP00000338082.4:p.Val34Ile
ENST00000380252.6:c.-66G>A	ENSP00000369602.2:n.-66G>A
ENST00000380259.7:c.1646G>A	ENSP00000369609.3:n.1646G>A
ENST00000642908.1:c.100G>A	ENSP00000495346.1:p.Val34Ile
ENST00000647543.1:c.100G>A	ENSP00000496470.1:p.Val34Ile
ENST00000336906.4:c.100G>A	ENSP00000338082.4:p.Val34Ile
ENST00000380252.5:c.70G>A	ENSP00000369602.1:p.Val24Ile
ENST00000380259.6:c.100G>A	ENSP00000369609.2:p.Val34Ile
ENST00000444587.1:c.62G>A	ENSP00000488218.1:p.Gly21Asp
ENST00000620888.4:c.100G>A	ENSP00000479637.1:p.Val34Ile
ENST00000624109.1:c.255C>T	ENSP00000485458.1:p.Asn85=
NM_000184.2:c.100G>A	NP_000175.1:p.Val34Ile
NM_000184.3:c.100G>A MANE Select	NP_000175.1:p.Val34Ile