Canonical Allele Identifier: CA492994199

Gene: HBA2

Linked Data

• MyVariant Identifiers: chr16:g.222965C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.172966C>G , CM000678.2:g.172966C>G	GRCh38
NC_000016.9:g.222965C>G , CM000678.1:g.222965C>G	GRCh37
NC_000016.8:g.162965C>G	NCBI36
NG_000006.1:g.33829C>G
NG_059186.1:g.1316C>G
NG_059271.1:g.5120C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000251595.11:c.54C>G MANE Select	ENSP00000251595.6:p.Val18=
ENST00000251595.10:c.54C>G	ENSP00000251595.6:p.Val18=
ENST00000397806.1:c.-2+8C>G	ENSP00000380908.1:n.-2+8C>G
ENST00000482565.1:n.73C>G
ENST00000484216.1:n.23C>G
NM_000517.4:c.54C>G	NP_000508.1:p.Val18=
NM_000517.6:c.54C>G MANE Select	NP_000508.1:p.Val18=