Canonical Allele Identifier: CA677767930
Gene: HBG2 HGNC NCBI

Linked Data

dbSNP Id: rs1206925180
gnomAD v3: 11-5250080-A-T
gnomAD v4: 11-5250080-A-T
MyVariant Identifiers: chr11:g.5271310A>T (hg19) chr11:g.5250080A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5250080A>T , CM000673.2:g.5250080A>T GRCh38
NC_000011.9:g.5271310A>T , CM000673.1:g.5271310A>T GRCh37
NC_000011.8:g.5227886A>T NCBI36
NG_000007.3:g.47536T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000642908.1:c.316-1593T>A ENSP00000495346.1:n.316-1593T>A
ENST00000647543.1:c.379-1593T>A ENSP00000496470.1:n.379-1593T>A
ENST00000620888.4:c.316-1593T>A ENSP00000479637.1:n.316-1593T>A
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