Canonical Allele Identifier: CA2630738149

Gene: HBA2

Linked Data

• gnomAD v4: 16-173687-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173687T>C , CM000678.2:g.173687T>C	GRCh38
NC_000016.9:g.223686T>C , CM000678.1:g.223686T>C	GRCh37
NC_000016.8:g.163686T>C	NCBI36
NG_000006.1:g.34550T>C
NG_059186.1:g.2037T>C
NG_059271.1:g.5841T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251595.11:c.*87T>C MANE Select	ENSP00000251595.6:n.*87T>C
ENST00000251595.10:c.*87T>C	ENSP00000251595.6:n.*87T>C
ENST00000397806.1:c.*87T>C	ENSP00000380908.1:n.*87T>C
NM_000517.4:c.*87T>C	NP_000508.1:n.*87T>C
NM_000517.6:c.*87T>C MANE Select	NP_000508.1:n.*87T>C