Canonical Allele Identifier: CA276415025

Gene: HBA2

Linked Data

• dbSNP Id: rs63750093
• MyVariant Identifiers: chr16:g.223299A>T (hg19) ; chr16:g.173300A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173300A>T , CM000678.2:g.173300A>T	GRCh38
NC_000016.9:g.223299A>T , CM000678.1:g.223299A>T	GRCh37
NC_000016.8:g.163299A>T	NCBI36
NG_000006.1:g.34163A>T
NG_059186.1:g.1650A>T
NG_059271.1:g.5454A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000251595.11:c.271A>T MANE Select	ENSP00000251595.6:p.Lys91Ter
ENST00000251595.10:c.271A>T	ENSP00000251595.6:p.Lys91Ter
ENST00000397806.1:c.175A>T	ENSP00000380908.1:p.Lys59Ter
ENST00000482565.1:n.407A>T
ENST00000484216.1:n.240A>T
NM_000517.4:c.271A>T	NP_000508.1:p.Lys91Ter
NM_000517.6:c.271A>T MANE Select	NP_000508.1:p.Lys91Ter