Canonical Allele Identifier: CA125586
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 15647
dbSNP Id: rs63750067
gnomAD v2: 16-223691-A-G
gnomAD v3: 16-173692-A-G
gnomAD v4: 16-173692-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173692A>G , CM000678.2:g.173692A>G GRCh38
NC_000016.9:g.223691A>G , CM000678.1:g.223691A>G GRCh37
NC_000016.8:g.163691A>G NCBI36
NG_000006.1:g.34555A>G
NG_059186.1:g.2042A>G
NG_059271.1:g.5846A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.*92A>G MANE Select ENSP00000251595.6:n.*92A>G
ENST00000251595.10:c.*92A>G ENSP00000251595.6:n.*92A>G
ENST00000397806.1:c.*92A>G ENSP00000380908.1:n.*92A>G
NM_000517.4:c.*92A>G NP_000508.1:n.*92A>G
NM_000517.6:c.*92A>G MANE Select NP_000508.1:n.*92A>G