Canonical Allele Identifier: CA7770177

Gene: HBA2

Linked Data

• dbSNP Id: rs747327414
• ExAC: 16:223498 C / T
• gnomAD v2: 16-223498-C-T
• gnomAD v3: 16-173499-C-T
• gnomAD v4: 16-173499-C-T
• MyVariant Identifiers: chr16:g.223498C>T (hg19) ; chr16:g.173499C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173499C>T , CM000678.2:g.173499C>T	GRCh38
NC_000016.9:g.223498C>T , CM000678.1:g.223498C>T	GRCh37
NC_000016.8:g.163498C>T	NCBI36
NG_000006.1:g.34362C>T
NG_059186.1:g.1849C>T
NG_059271.1:g.5653C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000251595.11:c.328C>T MANE Select	ENSP00000251595.6:p.Leu110=
ENST00000251595.10:c.328C>T	ENSP00000251595.6:p.Leu110=
ENST00000397806.1:c.232C>T	ENSP00000380908.1:p.Leu78=
ENST00000482565.1:n.464C>T
NM_000517.4:c.328C>T	NP_000508.1:p.Leu110=
NM_000517.6:c.328C>T MANE Select	NP_000508.1:p.Leu110=