Canonical Allele Identifier: CA973582670
Gene: HBA2 HGNC NCBI

Linked Data

dbSNP Id: rs1596570675
gnomAD v3: 16-173611-C-T
gnomAD v4: 16-173611-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173611C>T , CM000678.2:g.173611C>T GRCh38
NC_000016.9:g.223610C>T , CM000678.1:g.223610C>T GRCh37
NC_000016.8:g.163610C>T NCBI36
NG_000006.1:g.34474C>T
NG_059186.1:g.1961C>T
NG_059271.1:g.5765C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.*11C>T MANE Select ENSP00000251595.6:n.*11C>T
ENST00000251595.10:c.*11C>T ENSP00000251595.6:n.*11C>T
ENST00000397806.1:c.*11C>T ENSP00000380908.1:n.*11C>T
ENST00000482565.1:n.576C>T
NM_000517.4:c.*11C>T NP_000508.1:n.*11C>T
NM_000517.6:c.*11C>T MANE Select NP_000508.1:n.*11C>T