Canonical Allele Identifier: CA492785054
Gene: HBA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.223476A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173477A>C , CM000678.2:g.173477A>C GRCh38
NC_000016.9:g.223476A>C , CM000678.1:g.223476A>C GRCh37
NC_000016.8:g.163476A>C NCBI36
NG_000006.1:g.34340A>C
NG_059186.1:g.1827A>C
NG_059271.1:g.5631A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.306A>C MANE Select ENSP00000251595.6:p.Leu102=
ENST00000251595.10:c.306A>C ENSP00000251595.6:p.Leu102=
ENST00000397806.1:c.210A>C ENSP00000380908.1:p.Leu70=
ENST00000482565.1:n.442A>C
NM_000517.4:c.306A>C NP_000508.1:p.Leu102=
NM_000517.6:c.306A>C MANE Select NP_000508.1:p.Leu102=
Search 100 bp 5'
Search 100 bp 3'