Canonical Allele Identifier: CA393993203
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 439126
dbSNP Id: rs63750158
gnomAD v2: 16-223007-G-A
gnomAD v4: 16-173008-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173008G>A , CM000678.2:g.173008G>A GRCh38
NC_000016.9:g.223007G>A , CM000678.1:g.223007G>A GRCh37
NC_000016.8:g.163007G>A NCBI36
NG_000006.1:g.33871G>A
NG_059186.1:g.1358G>A
NG_059271.1:g.5162G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.95+1G>A MANE Select ENSP00000251595.6:n.95+1G>A
ENST00000251595.10:c.95+1G>A ENSP00000251595.6:n.95+1G>A
ENST00000397806.1:c.-2+50G>A ENSP00000380908.1:n.-2+50G>A
ENST00000482565.1:n.115G>A
ENST00000484216.1:n.64+1G>A
NM_000517.4:c.95+1G>A NP_000508.1:n.95+1G>A
NM_000517.6:c.95+1G>A MANE Select NP_000508.1:n.95+1G>A