Canonical Allele Identifier: CA379263543

Gene: HBG2

Linked Data

• MyVariant Identifiers: chr11:g.5274552C>A (hg19) ; chr11:g.5253322C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5253322C>A , CM000673.2:g.5253322C>A	GRCh38
NC_000011.9:g.5274552C>A , CM000673.1:g.5274552C>A	GRCh37
NC_000011.8:g.5231128C>A	NCBI36
NG_000007.3:g.44294G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.399G>T MANE Select	ENSP00000338082.4:p.Lys133Asn
ENST00000380252.6:c.234G>T	ENSP00000369602.2:p.Lys78Asn
ENST00000642908.1:c.315+970G>T	ENSP00000495346.1:n.315+970G>T
ENST00000647543.1:c.378+21G>T	ENSP00000496470.1:n.378+21G>T
ENST00000336906.4:c.399G>T	ENSP00000338082.4:p.Lys133Asn
ENST00000380252.5:c.369G>T	ENSP00000369602.1:p.Lys123Asn
ENST00000380259.6:c.399G>T	ENSP00000369609.2:p.Lys133Asn
ENST00000620888.4:c.315+970G>T	ENSP00000479637.1:n.315+970G>T
NM_000184.2:c.399G>T	NP_000175.1:p.Lys133Asn
NM_000184.3:c.399G>T MANE Select	NP_000175.1:p.Lys133Asn