Canonical Allele Identifier: CA276414392

Gene: HBA2

Linked Data

• dbSNP Id: rs281860619
• MyVariant Identifiers: chr16:g.222962G>T (hg19) ; chr16:g.172963G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.172963G>T , CM000678.2:g.172963G>T	GRCh38
NC_000016.9:g.222962G>T , CM000678.1:g.222962G>T	GRCh37
NC_000016.8:g.162962G>T	NCBI36
NG_000006.1:g.33826G>T
NG_059186.1:g.1313G>T
NG_059271.1:g.5117G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000251595.11:c.51G>T MANE Select	ENSP00000251595.6:p.Lys17Asn
ENST00000251595.10:c.51G>T	ENSP00000251595.6:p.Lys17Asn
ENST00000397806.1:c.-2+5G>T	ENSP00000380908.1:n.-2+5G>T
ENST00000482565.1:n.70G>T
ENST00000484216.1:n.20G>T
NM_000517.4:c.51G>T	NP_000508.1:p.Lys17Asn
NM_000517.6:c.51G>T MANE Select	NP_000508.1:p.Lys17Asn