Canonical Allele Identifier: CA2630737042

Gene: HBA2

Linked Data

• gnomAD v4: 16-172994-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.172994_172995insT , CM000678.2:g.172994_172995insT	GRCh38
NC_000016.9:g.222993_222994insT , CM000678.1:g.222993_222994insT	GRCh37
NC_000016.8:g.162993_162994insT	NCBI36
NG_000006.1:g.33857_33858insT
NG_059186.1:g.1344_1345insT
NG_059271.1:g.5148_5149insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251595.11:c.82_83insT MANE Select	ENSP00000251595.6:p.Glu28ValfsTer30
ENST00000251595.10:c.82_83insT	ENSP00000251595.6:p.Glu28ValfsTer30
ENST00000397806.1:c.-2+36_-2+37insT	ENSP00000380908.1:n.-2+36_-2+37insT
ENST00000482565.1:n.101_102insT
ENST00000484216.1:n.51_52insT
NM_000517.4:c.82_83insT	NP_000508.1:p.Glu28ValfsTer30
NM_000517.6:c.82_83insT MANE Select	NP_000508.1:p.Glu28ValfsTer30