Canonical Allele Identifier: CA393993050
Gene: HBA2 HGNC NCBI

Linked Data

gnomAD v4: 16-172961-A-C
MyVariant Identifiers: chr16:g.222960A>C (hg19) chr16:g.172961A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.172961A>C , CM000678.2:g.172961A>C GRCh38
NC_000016.9:g.222960A>C , CM000678.1:g.222960A>C GRCh37
NC_000016.8:g.162960A>C NCBI36
NG_000006.1:g.33824A>C
NG_059186.1:g.1311A>C
NG_059271.1:g.5115A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.49A>C MANE Select ENSP00000251595.6:p.Lys17Gln
ENST00000251595.10:c.49A>C ENSP00000251595.6:p.Lys17Gln
ENST00000397806.1:c.-2+3A>C ENSP00000380908.1:n.-2+3A>C
ENST00000482565.1:n.68A>C
ENST00000484216.1:n.18A>C
NM_000517.4:c.49A>C NP_000508.1:p.Lys17Gln
NM_000517.6:c.49A>C MANE Select NP_000508.1:p.Lys17Gln
Search 100 bp 5'
Search 100 bp 3'