Canonical Allele Identifier: CA393994583
Gene: HBA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.223552A>C (hg19) chr16:g.173553A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173553A>C , CM000678.2:g.173553A>C GRCh38
NC_000016.9:g.223552A>C , CM000678.1:g.223552A>C GRCh37
NC_000016.8:g.163552A>C NCBI36
NG_000006.1:g.34416A>C
NG_059186.1:g.1903A>C
NG_059271.1:g.5707A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.382A>C MANE Select ENSP00000251595.6:p.Lys128Gln
ENST00000251595.10:c.382A>C ENSP00000251595.6:p.Lys128Gln
ENST00000397806.1:c.286A>C ENSP00000380908.1:p.Lys96Gln
ENST00000482565.1:n.518A>C
NM_000517.4:c.382A>C NP_000508.1:p.Lys128Gln
NM_000517.6:c.382A>C MANE Select NP_000508.1:p.Lys128Gln
Search 100 bp 5'
Search 100 bp 3'