Canonical Allele Identifier: CA276414722
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 801171
ClinVar RCV Id: RCV000985718
dbSNP Id: rs281864844
gnomAD v3: 16-173202-G-A
gnomAD v4: 16-173202-G-A
MyVariant Identifiers: chr16:g.223201G>A (hg19) chr16:g.173202G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173202G>A , CM000678.2:g.173202G>A GRCh38
NC_000016.9:g.223201G>A , CM000678.1:g.223201G>A GRCh37
NC_000016.8:g.163201G>A NCBI36
NG_000006.1:g.34065G>A
NG_059186.1:g.1552G>A
NG_059271.1:g.5356G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.173G>A MANE Select ENSP00000251595.6:p.Gly58Asp
ENST00000251595.10:c.173G>A ENSP00000251595.6:p.Gly58Asp
ENST00000397806.1:c.77G>A ENSP00000380908.1:p.Gly26Asp
ENST00000482565.1:n.309G>A
ENST00000484216.1:n.142G>A
NM_000517.4:c.173G>A NP_000508.1:p.Gly58Asp
NM_000517.6:c.173G>A MANE Select NP_000508.1:p.Gly58Asp
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