Canonical Allele Identifier: CA2630738137
Gene: HBA2 HGNC NCBI

Linked Data

gnomAD v4: 16-173682-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173682G>C , CM000678.2:g.173682G>C GRCh38
NC_000016.9:g.223681G>C , CM000678.1:g.223681G>C GRCh37
NC_000016.8:g.163681G>C NCBI36
NG_000006.1:g.34545G>C
NG_059186.1:g.2032G>C
NG_059271.1:g.5836G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.*82G>C MANE Select ENSP00000251595.6:n.*82G>C
ENST00000251595.10:c.*82G>C ENSP00000251595.6:n.*82G>C
ENST00000397806.1:c.*82G>C ENSP00000380908.1:n.*82G>C
NM_000517.4:c.*82G>C NP_000508.1:n.*82G>C
NM_000517.6:c.*82G>C MANE Select NP_000508.1:n.*82G>C
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