Canonical Allele Identifier: CA2630737741

Gene: HBA2

Linked Data

• gnomAD v4: 16-173349-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173349C>T , CM000678.2:g.173349C>T	GRCh38
NC_000016.9:g.223348C>T , CM000678.1:g.223348C>T	GRCh37
NC_000016.8:g.163348C>T	NCBI36
NG_000006.1:g.34212C>T
NG_059186.1:g.1699C>T
NG_059271.1:g.5503C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251595.11:c.300+20C>T MANE Select	ENSP00000251595.6:n.300+20C>T
ENST00000251595.10:c.300+20C>T	ENSP00000251595.6:n.300+20C>T
ENST00000397806.1:c.204+20C>T	ENSP00000380908.1:n.204+20C>T
ENST00000482565.1:n.436+20C>T
ENST00000484216.1:n.289C>T
NM_000517.4:c.300+20C>T	NP_000508.1:n.300+20C>T
NM_000517.6:c.300+20C>T MANE Select	NP_000508.1:n.300+20C>T