Canonical Allele Identifier: CA217120449
Gene: HBG2 HGNC NCBI

Linked Data

dbSNP Id: rs539631574
MyVariant Identifiers: chr11:g.5274409A>G (hg19) chr11:g.5253179A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5253179A>G , CM000673.2:g.5253179A>G GRCh38
NC_000011.9:g.5274409A>G , CM000673.1:g.5274409A>G GRCh37
NC_000011.8:g.5230985A>G NCBI36
NG_000007.3:g.44437T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000642908.1:c.315+1113T>C ENSP00000495346.1:n.315+1113T>C
ENST00000647543.1:c.378+164T>C ENSP00000496470.1:n.378+164T>C
ENST00000620888.4:c.315+1113T>C ENSP00000479637.1:n.315+1113T>C
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