Canonical Allele Identifier: CA492784849
Gene: HBA2 HGNC NCBI

Linked Data

dbSNP Id: rs1327566421
gnomAD v3: 16-173320-C-G
gnomAD v4: 16-173320-C-G
MyVariant Identifiers: chr16:g.223319C>G (hg19) chr16:g.173320C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173320C>G , CM000678.2:g.173320C>G GRCh38
NC_000016.9:g.223319C>G , CM000678.1:g.223319C>G GRCh37
NC_000016.8:g.163319C>G NCBI36
NG_000006.1:g.34183C>G
NG_059186.1:g.1670C>G
NG_059271.1:g.5474C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.291C>G MANE Select ENSP00000251595.6:p.Val97=
ENST00000251595.10:c.291C>G ENSP00000251595.6:p.Val97=
ENST00000397806.1:c.195C>G ENSP00000380908.1:p.Val65=
ENST00000482565.1:n.427C>G
ENST00000484216.1:n.260C>G
NM_000517.4:c.291C>G NP_000508.1:p.Val97=
NM_000517.6:c.291C>G MANE Select NP_000508.1:p.Val97=
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