Canonical Allele Identifier: CA217119025
Gene: HBG2 HGNC NCBI

Linked Data

dbSNP Id: rs1029515802
gnomAD v3: 11-5250009-G-C
gnomAD v4: 11-5250009-G-C
MyVariant Identifiers: chr11:g.5271239G>C (hg19) chr11:g.5250009G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5250009G>C , CM000673.2:g.5250009G>C GRCh38
NC_000011.9:g.5271239G>C , CM000673.1:g.5271239G>C GRCh37
NC_000011.8:g.5227815G>C NCBI36
NG_000007.3:g.47607C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000642908.1:c.316-1522C>G ENSP00000495346.1:n.316-1522C>G
ENST00000647543.1:c.379-1522C>G ENSP00000496470.1:n.379-1522C>G
ENST00000620888.4:c.316-1522C>G ENSP00000479637.1:n.316-1522C>G
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