Canonical Allele Identifier: CA125658

Gene: HBA2

Linked Data

• ClinVar Variation Id: 15690
• ClinVar RCV Id: RCV000016981 ; RCV000985724 ; RCV001826473
• dbSNP Id: rs41397847
• ExAC: 16:223547 T / G
• gnomAD v2: 16-223547-T-G
• gnomAD v3: 16-173548-T-G
• gnomAD v4: 16-173548-T-G
• MyVariant Identifiers: chr16:g.223547T>G (hg19) ; chr16:g.173548T>G (hg38)
• PubMed: PMID:15921163

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173548T>G , CM000678.2:g.173548T>G	GRCh38
NC_000016.9:g.223547T>G , CM000678.1:g.223547T>G	GRCh37
NC_000016.8:g.163547T>G	NCBI36
NG_000006.1:g.34411T>G
NG_059186.1:g.1898T>G
NG_059271.1:g.5702T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251595.11:c.377T>G MANE Select	ENSP00000251595.6:p.Leu126Arg
ENST00000251595.10:c.377T>G	ENSP00000251595.6:p.Leu126Arg
ENST00000397806.1:c.281T>G	ENSP00000380908.1:p.Leu94Arg
ENST00000482565.1:n.513T>G
NM_000517.4:c.377T>G	NP_000508.1:p.Leu126Arg
NM_000517.6:c.377T>G MANE Select	NP_000508.1:p.Leu126Arg