Canonical Allele Identifier: CA677767810
Gene: HBG2 HGNC NCBI

Linked Data

dbSNP Id: rs1180419105
gnomAD v3: 11-5249963-A-G
gnomAD v4: 11-5249963-A-G
MyVariant Identifiers: chr11:g.5271193A>G (hg19) chr11:g.5249963A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5249963A>G , CM000673.2:g.5249963A>G GRCh38
NC_000011.9:g.5271193A>G , CM000673.1:g.5271193A>G GRCh37
NC_000011.8:g.5227769A>G NCBI36
NG_000007.3:g.47653T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000642908.1:c.316-1476T>C ENSP00000495346.1:n.316-1476T>C
ENST00000647543.1:c.379-1476T>C ENSP00000496470.1:n.379-1476T>C
ENST00000620888.4:c.316-1476T>C ENSP00000479637.1:n.316-1476T>C
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