Canonical Allele Identifier: CA281647
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 15644
ClinVar RCV Id: RCV000016930
dbSNP Id: rs33987053
gnomAD v2: 16-223519-G-T
gnomAD v3: 16-173520-G-T
gnomAD v4: 16-173520-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173520G>T , CM000678.2:g.173520G>T GRCh38
NC_000016.9:g.223519G>T , CM000678.1:g.223519G>T GRCh37
NC_000016.8:g.163519G>T NCBI36
NG_000006.1:g.34383G>T
NG_059186.1:g.1870G>T
NG_059271.1:g.5674G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.349G>T MANE Select ENSP00000251595.6:p.Glu117Ter
ENST00000251595.10:c.349G>T ENSP00000251595.6:p.Glu117Ter
ENST00000397806.1:c.253G>T ENSP00000380908.1:p.Glu85Ter
ENST00000482565.1:n.485G>T
NM_000517.4:c.349G>T NP_000508.1:p.Glu117Ter
NM_000517.6:c.349G>T MANE Select NP_000508.1:p.Glu117Ter