Canonical Allele Identifier: CA2630738131
Gene: HBA2 HGNC NCBI

Linked Data

dbSNP Id: rs559330834
gnomAD v4: 16-173681-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173681G>A , CM000678.2:g.173681G>A GRCh38
NC_000016.9:g.223680G>A , CM000678.1:g.223680G>A GRCh37
NC_000016.8:g.163680G>A NCBI36
NG_000006.1:g.34544G>A
NG_059186.1:g.2031G>A
NG_059271.1:g.5835G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.*81G>A MANE Select ENSP00000251595.6:n.*81G>A
ENST00000251595.10:c.*81G>A ENSP00000251595.6:n.*81G>A
ENST00000397806.1:c.*81G>A ENSP00000380908.1:n.*81G>A
NM_000517.4:c.*81G>A NP_000508.1:n.*81G>A
NM_000517.6:c.*81G>A MANE Select NP_000508.1:n.*81G>A
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