Canonical Allele Identifier: CA393994311

Gene: HBA2

Linked Data

• gnomAD v4: 16-173328-A-T
• MyVariant Identifiers: chr16:g.223327A>T (hg19) ; chr16:g.173328A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173328A>T , CM000678.2:g.173328A>T	GRCh38
NC_000016.9:g.223327A>T , CM000678.1:g.223327A>T	GRCh37
NC_000016.8:g.163327A>T	NCBI36
NG_000006.1:g.34191A>T
NG_059186.1:g.1678A>T
NG_059271.1:g.5482A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251595.11:c.299A>T MANE Select	ENSP00000251595.6:p.Lys100Met
ENST00000251595.10:c.299A>T	ENSP00000251595.6:p.Lys100Met
ENST00000397806.1:c.203A>T	ENSP00000380908.1:p.Lys68Met
ENST00000482565.1:n.435A>T
ENST00000484216.1:n.268A>T
NM_000517.4:c.299A>T	NP_000508.1:p.Lys100Met
NM_000517.6:c.299A>T MANE Select	NP_000508.1:p.Lys100Met