Canonical Allele Identifier: CA7770185
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 439118
ClinVar RCV Id: RCV000508426 RCV003235257
dbSNP Id: rs41364652
ExAC: 16:223579 C / A
gnomAD v2: 16-223579-C-A
gnomAD v3: 16-173580-C-A
gnomAD v4: 16-173580-C-A
MyVariant Identifiers: chr16:g.223579C>A (hg19) chr16:g.173580C>A (hg38)
PubMed: PMID:3781866 PMID:7803274 PMID:8226092
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173580C>A , CM000678.2:g.173580C>A GRCh38
NC_000016.9:g.223579C>A , CM000678.1:g.223579C>A GRCh37
NC_000016.8:g.163579C>A NCBI36
NG_000006.1:g.34443C>A
NG_059186.1:g.1930C>A
NG_059271.1:g.5734C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.409C>A MANE Select ENSP00000251595.6:p.Leu137Met
ENST00000251595.10:c.409C>A ENSP00000251595.6:p.Leu137Met
ENST00000397806.1:c.313C>A ENSP00000380908.1:p.Leu105Met
ENST00000482565.1:n.545C>A
NM_000517.4:c.409C>A NP_000508.1:p.Leu137Met
NM_000517.6:c.409C>A MANE Select NP_000508.1:p.Leu137Met
Search 100 bp 5'
Search 100 bp 3'