Canonical Allele Identifier: CA597205400
Gene: HBG2 HGNC NCBI

Linked Data

dbSNP Id: rs1206583362
gnomAD v2: 11-5271291-C-T
gnomAD v3: 11-5250061-C-T
gnomAD v4: 11-5250061-C-T
MyVariant Identifiers: chr11:g.5271291C>T (hg19) chr11:g.5250061C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5250061C>T , CM000673.2:g.5250061C>T GRCh38
NC_000011.9:g.5271291C>T , CM000673.1:g.5271291C>T GRCh37
NC_000011.8:g.5227867C>T NCBI36
NG_000007.3:g.47555G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000642908.1:c.316-1574G>A ENSP00000495346.1:n.316-1574G>A
ENST00000647543.1:c.379-1574G>A ENSP00000496470.1:n.379-1574G>A
ENST00000620888.4:c.316-1574G>A ENSP00000479637.1:n.316-1574G>A
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