Canonical Allele Identifier: CA492994254

Gene: HBA2

Linked Data

• gnomAD v4: 16-173000-C-T
• MyVariant Identifiers: chr16:g.222999C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173000C>T , CM000678.2:g.173000C>T	GRCh38
NC_000016.9:g.222999C>T , CM000678.1:g.222999C>T	GRCh37
NC_000016.8:g.162999C>T	NCBI36
NG_000006.1:g.33863C>T
NG_059186.1:g.1350C>T
NG_059271.1:g.5154C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251595.11:c.88C>T MANE Select	ENSP00000251595.6:p.Leu30=
ENST00000251595.10:c.88C>T	ENSP00000251595.6:p.Leu30=
ENST00000397806.1:c.-2+42C>T	ENSP00000380908.1:n.-2+42C>T
ENST00000482565.1:n.107C>T
ENST00000484216.1:n.57C>T
NM_000517.4:c.88C>T	NP_000508.1:p.Leu30=
NM_000517.6:c.88C>T MANE Select	NP_000508.1:p.Leu30=