Canonical Allele Identifier: CA492994633
Gene: HBA2 HGNC NCBI

Linked Data

dbSNP Id: rs1327047505
gnomAD v2: 16-223220-C-T
gnomAD v4: 16-173221-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173221C>T , CM000678.2:g.173221C>T GRCh38
NC_000016.9:g.223220C>T , CM000678.1:g.223220C>T GRCh37
NC_000016.8:g.163220C>T NCBI36
NG_000006.1:g.34084C>T
NG_059186.1:g.1571C>T
NG_059271.1:g.5375C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.192C>T MANE Select ENSP00000251595.6:p.Ala64=
ENST00000251595.10:c.192C>T ENSP00000251595.6:p.Ala64=
ENST00000397806.1:c.96C>T ENSP00000380908.1:p.Ala32=
ENST00000482565.1:n.328C>T
ENST00000484216.1:n.161C>T
NM_000517.4:c.192C>T NP_000508.1:p.Ala64=
NM_000517.6:c.192C>T MANE Select NP_000508.1:p.Ala64=