Canonical Allele Identifier: CA125644
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 15682
ClinVar RCV Id: RCV000016971
dbSNP Id: rs41393644
gnomAD v4: 16-173591-A-C
MyVariant Identifiers: chr16:g.223590A>C (hg19) chr16:g.173591A>C (hg38)
PubMed: PMID:12779274
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173591A>C , CM000678.2:g.173591A>C GRCh38
NC_000016.9:g.223590A>C , CM000678.1:g.223590A>C GRCh37
NC_000016.8:g.163590A>C NCBI36
NG_000006.1:g.34454A>C
NG_059186.1:g.1941A>C
NG_059271.1:g.5745A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.420A>C MANE Select ENSP00000251595.6:p.Lys140Asn
ENST00000251595.10:c.420A>C ENSP00000251595.6:p.Lys140Asn
ENST00000397806.1:c.324A>C ENSP00000380908.1:p.Lys108Asn
ENST00000482565.1:n.556A>C
NM_000517.4:c.420A>C NP_000508.1:p.Lys140Asn
NM_000517.6:c.420A>C MANE Select NP_000508.1:p.Lys140Asn
Search 100 bp 5'
Search 100 bp 3'