Canonical Allele Identifier: CA2630737778

Gene: HBA2

Linked Data

• gnomAD v4: 16-173391-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173391A>G , CM000678.2:g.173391A>G	GRCh38
NC_000016.9:g.223390A>G , CM000678.1:g.223390A>G	GRCh37
NC_000016.8:g.163390A>G	NCBI36
NG_000006.1:g.34254A>G
NG_059186.1:g.1741A>G
NG_059271.1:g.5545A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251595.11:c.300+62A>G MANE Select	ENSP00000251595.6:n.300+62A>G
ENST00000251595.10:c.300+62A>G	ENSP00000251595.6:n.300+62A>G
ENST00000397806.1:c.204+62A>G	ENSP00000380908.1:n.204+62A>G
ENST00000482565.1:n.436+62A>G
ENST00000484216.1:n.331A>G
NM_000517.4:c.300+62A>G	NP_000508.1:n.300+62A>G
NM_000517.6:c.300+62A>G MANE Select	NP_000508.1:n.300+62A>G