Canonical Allele Identifier: CA2630737742

Gene: HBA2

Linked Data

• gnomAD v4: 16-173350-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173350G>T , CM000678.2:g.173350G>T	GRCh38
NC_000016.9:g.223349G>T , CM000678.1:g.223349G>T	GRCh37
NC_000016.8:g.163349G>T	NCBI36
NG_000006.1:g.34213G>T
NG_059186.1:g.1700G>T
NG_059271.1:g.5504G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251595.11:c.300+21G>T MANE Select	ENSP00000251595.6:n.300+21G>T
ENST00000251595.10:c.300+21G>T	ENSP00000251595.6:n.300+21G>T
ENST00000397806.1:c.204+21G>T	ENSP00000380908.1:n.204+21G>T
ENST00000482565.1:n.436+21G>T
ENST00000484216.1:n.290G>T
NM_000517.4:c.300+21G>T	NP_000508.1:n.300+21G>T
NM_000517.6:c.300+21G>T MANE Select	NP_000508.1:n.300+21G>T