Canonical Allele Identifier: CA5840200

Gene: HBG2

Linked Data

• dbSNP Id: rs147282516
• ExAC: 11:5274529 G / T
• gnomAD v3: 11-5253299-G-T
• gnomAD v4: 11-5253299-G-T
• MyVariant Identifiers: chr11:g.5274529G>T (hg19) ; chr11:g.5253299G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5253299G>T , CM000673.2:g.5253299G>T	GRCh38
NC_000011.9:g.5274529G>T , CM000673.1:g.5274529G>T	GRCh37
NC_000011.8:g.5231105G>T	NCBI36
NG_000007.3:g.44317C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000336906.6:c.422C>A MANE Select	ENSP00000338082.4:p.Ala141Asp
ENST00000380252.6:c.257C>A	ENSP00000369602.2:p.Ala86Asp
ENST00000642908.1:c.315+993C>A	ENSP00000495346.1:n.315+993C>A
ENST00000647543.1:c.378+44C>A	ENSP00000496470.1:n.378+44C>A
ENST00000336906.4:c.422C>A	ENSP00000338082.4:p.Ala141Asp
ENST00000380252.5:c.392C>A	ENSP00000369602.1:p.Ala131Asp
ENST00000380259.6:c.422C>A	ENSP00000369609.2:p.Ala141Asp
ENST00000620888.4:c.315+993C>A	ENSP00000479637.1:n.315+993C>A
NM_000184.2:c.422C>A	NP_000175.1:p.Ala141Asp
NM_000184.3:c.422C>A MANE Select	NP_000175.1:p.Ala141Asp