Canonical Allele Identifier: CA393994614

Gene: HBA2

Linked Data

• MyVariant Identifiers: chr16:g.223561G>T (hg19) ; chr16:g.173562G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173562G>T , CM000678.2:g.173562G>T	GRCh38
NC_000016.9:g.223561G>T , CM000678.1:g.223561G>T	GRCh37
NC_000016.8:g.163561G>T	NCBI36
NG_000006.1:g.34425G>T
NG_059186.1:g.1912G>T
NG_059271.1:g.5716G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000251595.11:c.391G>T MANE Select	ENSP00000251595.6:p.Ala131Ser
ENST00000251595.10:c.391G>T	ENSP00000251595.6:p.Ala131Ser
ENST00000397806.1:c.295G>T	ENSP00000380908.1:p.Ala99Ser
ENST00000482565.1:n.527G>T
NM_000517.4:c.391G>T	NP_000508.1:p.Ala131Ser
NM_000517.6:c.391G>T MANE Select	NP_000508.1:p.Ala131Ser