Canonical Allele Identifier: CA393994463
Gene: HBA2 HGNC NCBI

Linked Data

gnomAD v4: 16-173509-A-C
MyVariant Identifiers: chr16:g.223508A>C (hg19) chr16:g.173509A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173509A>C , CM000678.2:g.173509A>C GRCh38
NC_000016.9:g.223508A>C , CM000678.1:g.223508A>C GRCh37
NC_000016.8:g.163508A>C NCBI36
NG_000006.1:g.34372A>C
NG_059186.1:g.1859A>C
NG_059271.1:g.5663A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.338A>C MANE Select ENSP00000251595.6:p.His113Pro
ENST00000251595.10:c.338A>C ENSP00000251595.6:p.His113Pro
ENST00000397806.1:c.242A>C ENSP00000380908.1:p.His81Pro
ENST00000482565.1:n.474A>C
NM_000517.4:c.338A>C NP_000508.1:p.His113Pro
NM_000517.6:c.338A>C MANE Select NP_000508.1:p.His113Pro
Search 100 bp 5'
Search 100 bp 3'