Canonical Allele Identifier: CA2630737797
Gene: HBA2 HGNC NCBI

Linked Data

gnomAD v4: 16-173415-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173415G>A , CM000678.2:g.173415G>A GRCh38
NC_000016.9:g.223414G>A , CM000678.1:g.223414G>A GRCh37
NC_000016.8:g.163414G>A NCBI36
NG_000006.1:g.34278G>A
NG_059186.1:g.1765G>A
NG_059271.1:g.5569G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.301-57G>A MANE Select ENSP00000251595.6:n.301-57G>A
ENST00000251595.10:c.301-57G>A ENSP00000251595.6:n.301-57G>A
ENST00000397806.1:c.205-57G>A ENSP00000380908.1:n.205-57G>A
ENST00000482565.1:n.437-57G>A
ENST00000484216.1:n.355G>A
NM_000517.4:c.301-57G>A NP_000508.1:n.301-57G>A
NM_000517.6:c.301-57G>A MANE Select NP_000508.1:n.301-57G>A