Canonical Allele Identifier: CA7770186
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 725759
ClinVar RCV Id: RCV000899871 RCV001078248 RCV003235432 RCV003950541
dbSNP Id: rs371394396
ExAC: 16:223584 C / T
gnomAD v2: 16-223584-C-T
gnomAD v3: 16-173585-C-T
gnomAD v4: 16-173585-C-T
MyVariant Identifiers: chr16:g.223584C>T (hg19) chr16:g.173585C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173585C>T , CM000678.2:g.173585C>T GRCh38
NC_000016.9:g.223584C>T , CM000678.1:g.223584C>T GRCh37
NC_000016.8:g.163584C>T NCBI36
NG_000006.1:g.34448C>T
NG_059186.1:g.1935C>T
NG_059271.1:g.5739C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.414C>T MANE Select ENSP00000251595.6:p.Thr138=
ENST00000251595.10:c.414C>T ENSP00000251595.6:p.Thr138=
ENST00000397806.1:c.318C>T ENSP00000380908.1:p.Thr106=
ENST00000482565.1:n.550C>T
NM_000517.4:c.414C>T NP_000508.1:p.Thr138=
NM_000517.6:c.414C>T MANE Select NP_000508.1:p.Thr138=
Search 100 bp 5'
Search 100 bp 3'