Canonical Allele Identifier: CA5840202

Gene: HBG2

Linked Data

• dbSNP Id: rs749064228
• ExAC: 11:5274539 C / G
• gnomAD v2: 11-5274539-C-G
• gnomAD v4: 11-5253309-C-G
• MyVariant Identifiers: chr11:g.5274539C>G (hg19) ; chr11:g.5253309C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5253309C>G , CM000673.2:g.5253309C>G	GRCh38
NC_000011.9:g.5274539C>G , CM000673.1:g.5274539C>G	GRCh37
NC_000011.8:g.5231115C>G	NCBI36
NG_000007.3:g.44307G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.412G>C MANE Select	ENSP00000338082.4:p.Val138Leu
ENST00000380252.6:c.247G>C	ENSP00000369602.2:p.Val83Leu
ENST00000642908.1:c.315+983G>C	ENSP00000495346.1:n.315+983G>C
ENST00000647543.1:c.378+34G>C	ENSP00000496470.1:n.378+34G>C
ENST00000336906.4:c.412G>C	ENSP00000338082.4:p.Val138Leu
ENST00000380252.5:c.382G>C	ENSP00000369602.1:p.Val128Leu
ENST00000380259.6:c.412G>C	ENSP00000369609.2:p.Val138Leu
ENST00000620888.4:c.315+983G>C	ENSP00000479637.1:n.315+983G>C
NM_000184.2:c.412G>C	NP_000175.1:p.Val138Leu
NM_000184.3:c.412G>C MANE Select	NP_000175.1:p.Val138Leu