Canonical Allele Identifier: CA677769986
Gene: HBG2 HGNC NCBI

Linked Data

dbSNP Id: rs1237666371
gnomAD v3: 11-5253189-G-C
gnomAD v4: 11-5253189-G-C
MyVariant Identifiers: chr11:g.5274419G>C (hg19) chr11:g.5253189G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5253189G>C , CM000673.2:g.5253189G>C GRCh38
NC_000011.9:g.5274419G>C , CM000673.1:g.5274419G>C GRCh37
NC_000011.8:g.5230995G>C NCBI36
NG_000007.3:g.44427C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000336906.6:c.*88C>G MANE Select ENSP00000338082.4:n.*88C>G
ENST00000642908.1:c.315+1103C>G ENSP00000495346.1:n.315+1103C>G
ENST00000647543.1:c.378+154C>G ENSP00000496470.1:n.378+154C>G
ENST00000620888.4:c.315+1103C>G ENSP00000479637.1:n.315+1103C>G
NM_000184.3:c.*88C>G MANE Select NP_000175.1:n.*88C>G
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