Canonical Allele Identifier: CA125557

Gene: HBA2

Linked Data

• ClinVar Variation Id: 15630
• ClinVar RCV Id: RCV000016897 ; RCV000417220 ; RCV001811168 ; RCV002476982
• dbSNP Id: rs41397847
• ExAC: 16:223547 T / C
• gnomAD v2: 16-223547-T-C
• gnomAD v3: 16-173548-T-C
• gnomAD v4: 16-173548-T-C
• MyVariant Identifiers: chr16:g.223547T>C (hg19) ; chr16:g.173548T>C (hg38)
• PubMed: PMID:1726096 ; PMID:7070526 ; PMID:20301608

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251595.11:c.377T>C MANE Select	ENSP00000251595.6:p.Leu126Pro
ENST00000251595.10:c.377T>C	ENSP00000251595.6:p.Leu126Pro
ENST00000397806.1:c.281T>C	ENSP00000380908.1:p.Leu94Pro
ENST00000482565.1:n.513T>C
NM_000517.4:c.377T>C	NP_000508.1:p.Leu126Pro
NM_000517.6:c.377T>C MANE Select	NP_000508.1:p.Leu126Pro