Canonical Allele Identifier: CA2630737125
Gene: HBA2 HGNC NCBI

Linked Data

gnomAD v4: 16-173053-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173053G>A , CM000678.2:g.173053G>A GRCh38
NC_000016.9:g.223052G>A , CM000678.1:g.223052G>A GRCh37
NC_000016.8:g.163052G>A NCBI36
NG_000006.1:g.33916G>A
NG_059186.1:g.1403G>A
NG_059271.1:g.5207G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.95+46G>A MANE Select ENSP00000251595.6:n.95+46G>A
ENST00000251595.10:c.95+46G>A ENSP00000251595.6:n.95+46G>A
ENST00000397806.1:c.-1-72G>A ENSP00000380908.1:n.-1-72G>A
ENST00000482565.1:n.160G>A
ENST00000484216.1:n.64+46G>A
NM_000517.4:c.95+46G>A NP_000508.1:n.95+46G>A
NM_000517.6:c.95+46G>A MANE Select NP_000508.1:n.95+46G>A