Canonical Allele Identifier: CA276414881

Gene: HBA2

Linked Data

• dbSNP Id: rs41400445
• gnomAD v4: 16-173260-G-A
• MyVariant Identifiers: chr16:g.223259G>A (hg19) ; chr16:g.173260G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173260G>A , CM000678.2:g.173260G>A	GRCh38
NC_000016.9:g.223259G>A , CM000678.1:g.223259G>A	GRCh37
NC_000016.8:g.163259G>A	NCBI36
NG_000006.1:g.34123G>A
NG_059186.1:g.1610G>A
NG_059271.1:g.5414G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251595.11:c.231G>A MANE Select	ENSP00000251595.6:p.Met77Ile
ENST00000251595.10:c.231G>A	ENSP00000251595.6:p.Met77Ile
ENST00000397806.1:c.135G>A	ENSP00000380908.1:p.Met45Ile
ENST00000482565.1:n.367G>A
ENST00000484216.1:n.200G>A
NM_000517.4:c.231G>A	NP_000508.1:p.Met77Ile
NM_000517.6:c.231G>A MANE Select	NP_000508.1:p.Met77Ile