Canonical Allele Identifier: CA597207167

Gene: HBG2

Linked Data

• dbSNP Id: rs935279911
• gnomAD v2: 11-5274432-G-A
• MyVariant Identifiers: chr11:g.5274432G>A (hg19) ; chr11:g.5253202G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5253202G>A , CM000673.2:g.5253202G>A	GRCh38
NC_000011.9:g.5274432G>A , CM000673.1:g.5274432G>A	GRCh37
NC_000011.8:g.5231008G>A	NCBI36
NG_000007.3:g.44414C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.*75C>T MANE Select	ENSP00000338082.4:n.*75C>T
ENST00000380252.6:c.*75C>T	ENSP00000369602.2:n.*75C>T
ENST00000642908.1:c.315+1090C>T	ENSP00000495346.1:n.315+1090C>T
ENST00000647543.1:c.378+141C>T	ENSP00000496470.1:n.378+141C>T
ENST00000336906.4:c.*75C>T	ENSP00000338082.4:n.*75C>T
ENST00000380252.5:c.*75C>T	ENSP00000369602.1:n.*75C>T
ENST00000380259.6:c.*75C>T	ENSP00000369609.2:n.*75C>T
ENST00000620888.4:c.315+1090C>T	ENSP00000479637.1:n.315+1090C>T
NM_000184.2:c.*75C>T	NP_000175.1:n.*75C>T
NM_000184.3:c.*75C>T MANE Select	NP_000175.1:n.*75C>T