Canonical Allele Identifier: CA276414876
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2681964
ClinVar RCV Id: RCV003477256
dbSNP Id: rs281864860
gnomAD v2: 16-223258-T-C
gnomAD v3: 16-173259-T-C
gnomAD v4: 16-173259-T-C
MyVariant Identifiers: chr16:g.223258T>C (hg19) chr16:g.173259T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173259T>C , CM000678.2:g.173259T>C GRCh38
NC_000016.9:g.223258T>C , CM000678.1:g.223258T>C GRCh37
NC_000016.8:g.163258T>C NCBI36
NG_000006.1:g.34122T>C
NG_059186.1:g.1609T>C
NG_059271.1:g.5413T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.230T>C MANE Select ENSP00000251595.6:p.Met77Thr
ENST00000251595.10:c.230T>C ENSP00000251595.6:p.Met77Thr
ENST00000397806.1:c.134T>C ENSP00000380908.1:p.Met45Thr
ENST00000482565.1:n.366T>C
ENST00000484216.1:n.199T>C
NM_000517.4:c.230T>C NP_000508.1:p.Met77Thr
NM_000517.6:c.230T>C MANE Select NP_000508.1:p.Met77Thr
Search 100 bp 5'
Search 100 bp 3'