Canonical Allele Identifier: CA393993723
Gene: HBA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.223270T>A (hg19) chr16:g.173271T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173271T>A , CM000678.2:g.173271T>A GRCh38
NC_000016.9:g.223270T>A , CM000678.1:g.223270T>A GRCh37
NC_000016.8:g.163270T>A NCBI36
NG_000006.1:g.34134T>A
NG_059186.1:g.1621T>A
NG_059271.1:g.5425T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.242T>A MANE Select ENSP00000251595.6:p.Leu81Gln
ENST00000251595.10:c.242T>A ENSP00000251595.6:p.Leu81Gln
ENST00000397806.1:c.146T>A ENSP00000380908.1:p.Leu49Gln
ENST00000482565.1:n.378T>A
ENST00000484216.1:n.211T>A
NM_000517.4:c.242T>A NP_000508.1:p.Leu81Gln
NM_000517.6:c.242T>A MANE Select NP_000508.1:p.Leu81Gln
Search 100 bp 5'
Search 100 bp 3'