Canonical Allele Identifier: CA393993077

Gene: HBA2

Linked Data

• MyVariant Identifiers: chr16:g.222967G>T (hg19) ; chr16:g.172968G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.172968G>T , CM000678.2:g.172968G>T	GRCh38
NC_000016.9:g.222967G>T , CM000678.1:g.222967G>T	GRCh37
NC_000016.8:g.162967G>T	NCBI36
NG_000006.1:g.33831G>T
NG_059186.1:g.1318G>T
NG_059271.1:g.5122G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000251595.11:c.56G>T MANE Select	ENSP00000251595.6:p.Gly19Val
ENST00000251595.10:c.56G>T	ENSP00000251595.6:p.Gly19Val
ENST00000397806.1:c.-2+10G>T	ENSP00000380908.1:n.-2+10G>T
ENST00000482565.1:n.75G>T
ENST00000484216.1:n.25G>T
NM_000517.4:c.56G>T	NP_000508.1:p.Gly19Val
NM_000517.6:c.56G>T MANE Select	NP_000508.1:p.Gly19Val