Canonical Allele Identifier: CA2630737118

Gene: HBA2

Linked Data

• gnomAD v4: 16-173045-CCCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173048_173050del , CM000678.2:g.173048_173050del	GRCh38
NC_000016.9:g.223047_223049del , CM000678.1:g.223047_223049del	GRCh37
NC_000016.8:g.163047_163049del	NCBI36
NG_000006.1:g.33911_33913del
NG_059186.1:g.1398_1400del
NG_059271.1:g.5202_5204del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251595.11:c.95+41_95+43del MANE Select	ENSP00000251595.6:n.95+41_95+43del
ENST00000251595.10:c.95+41_95+43del	ENSP00000251595.6:n.95+41_95+43del
ENST00000397806.1:c.-1-77_-1-75del	ENSP00000380908.1:n.-1-77_-1-75del
ENST00000482565.1:n.155_157del
ENST00000484216.1:n.64+41_64+43del
NM_000517.4:c.95+41_95+43del	NP_000508.1:n.95+41_95+43del
NM_000517.6:c.95+41_95+43del MANE Select	NP_000508.1:n.95+41_95+43del