Canonical Allele Identifier: CA379264962

Gene: HBG2

Linked Data

• ClinVar Variation Id: 800493
• ClinVar RCV Id: RCV000984481
• dbSNP Id: rs1278163109
• MyVariant Identifiers: chr11:g.5275874G>T (hg19) ; chr11:g.5254644G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254644G>T , CM000673.2:g.5254644G>T	GRCh38
NC_000011.9:g.5275874G>T , CM000673.1:g.5275874G>T	GRCh37
NC_000011.8:g.5232450G>T	NCBI36
NG_000007.3:g.42972C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.85C>A MANE Select	ENSP00000338082.4:p.Leu29Met
ENST00000380252.6:c.-73-130C>A	ENSP00000369602.2:n.-73-130C>A
ENST00000380259.7:c.1631C>A	ENSP00000369609.3:n.1631C>A
ENST00000642908.1:c.85C>A	ENSP00000495346.1:p.Leu29Met
ENST00000647543.1:c.85C>A	ENSP00000496470.1:p.Leu29Met
ENST00000336906.4:c.85C>A	ENSP00000338082.4:p.Leu29Met
ENST00000380252.5:c.63-130C>A	ENSP00000369602.1:n.63-130C>A
ENST00000380259.6:c.85C>A	ENSP00000369609.2:p.Leu29Met
ENST00000444587.1:c.54+31C>A	ENSP00000488218.1:n.54+31C>A
ENST00000620888.4:c.85C>A	ENSP00000479637.1:p.Leu29Met
ENST00000624109.1:c.273G>T	ENSP00000485458.1:p.Gln91His
NM_000184.2:c.85C>A	NP_000175.1:p.Leu29Met
NM_000184.3:c.85C>A MANE Select	NP_000175.1:p.Leu29Met