Canonical Allele Identifier: CA393993669

Gene: HBA2

Linked Data

• MyVariant Identifiers: chr16:g.223259G>T (hg19) ; chr16:g.173260G>T (hg38)

Genomic Alleles

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

Transcript Alleles

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