Canonical Allele Identifier: CA276415416

Gene: HBA2

Linked Data

• dbSNP Id: rs281864946
• MyVariant Identifiers: chr16:g.223520A>T (hg19) ; chr16:g.173521A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173521A>T , CM000678.2:g.173521A>T	GRCh38
NC_000016.9:g.223520A>T , CM000678.1:g.223520A>T	GRCh37
NC_000016.8:g.163520A>T	NCBI36
NG_000006.1:g.34384A>T
NG_059186.1:g.1871A>T
NG_059271.1:g.5675A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251595.11:c.350A>T MANE Select	ENSP00000251595.6:p.Glu117Val
ENST00000251595.10:c.350A>T	ENSP00000251595.6:p.Glu117Val
ENST00000397806.1:c.254A>T	ENSP00000380908.1:p.Glu85Val
ENST00000482565.1:n.486A>T
NM_000517.4:c.350A>T	NP_000508.1:p.Glu117Val
NM_000517.6:c.350A>T MANE Select	NP_000508.1:p.Glu117Val