Canonical Allele Identifier: CA7770195

Gene: HBA2

Linked Data

• dbSNP Id: rs2362745
• ExAC: 16:223614 A / G
• gnomAD v2: 16-223614-A-G
• gnomAD v3: 16-173615-A-G
• gnomAD v4: 16-173615-A-G
• MyVariant Identifiers: chr16:g.223614A>G (hg19) ; chr16:g.173615A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173615A>G , CM000678.2:g.173615A>G	GRCh38
NC_000016.9:g.223614A>G , CM000678.1:g.223614A>G	GRCh37
NC_000016.8:g.163614A>G	NCBI36
NG_000006.1:g.34478A>G
NG_059186.1:g.1965A>G
NG_059271.1:g.5769A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251595.11:c.*15A>G MANE Select	ENSP00000251595.6:n.*15A>G
ENST00000251595.10:c.*15A>G	ENSP00000251595.6:n.*15A>G
ENST00000397806.1:c.*15A>G	ENSP00000380908.1:n.*15A>G
ENST00000482565.1:n.580A>G
NM_000517.4:c.*15A>G	NP_000508.1:n.*15A>G
NM_000517.6:c.*15A>G MANE Select	NP_000508.1:n.*15A>G