Canonical Allele Identifier: CA125612
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 15662
ClinVar RCV Id: RCV000016948
dbSNP Id: rs33933481
gnomAD v4: 16-173550-G-A
MyVariant Identifiers: chr16:g.223549G>A (hg19) chr16:g.173550G>A (hg38)
PubMed: PMID:13856 PMID:10490145
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173550G>A , CM000678.2:g.173550G>A GRCh38
NC_000016.9:g.223549G>A , CM000678.1:g.223549G>A GRCh37
NC_000016.8:g.163549G>A NCBI36
NG_000006.1:g.34413G>A
NG_059186.1:g.1900G>A
NG_059271.1:g.5704G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.379G>A MANE Select ENSP00000251595.6:p.Asp127Asn
ENST00000251595.10:c.379G>A ENSP00000251595.6:p.Asp127Asn
ENST00000397806.1:c.283G>A ENSP00000380908.1:p.Asp95Asn
ENST00000482565.1:n.515G>A
NM_000517.4:c.379G>A NP_000508.1:p.Asp127Asn
NM_000517.6:c.379G>A MANE Select NP_000508.1:p.Asp127Asn
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