Canonical Allele Identifier: CA393993492
Gene: HBA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173214A>T , CM000678.2:g.173214A>T GRCh38
NC_000016.9:g.223213A>T , CM000678.1:g.223213A>T GRCh37
NC_000016.8:g.163213A>T NCBI36
NG_000006.1:g.34077A>T
NG_059186.1:g.1564A>T
NG_059271.1:g.5368A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.185A>T MANE Select ENSP00000251595.6:p.Lys62Met
ENST00000251595.10:c.185A>T ENSP00000251595.6:p.Lys62Met
ENST00000397806.1:c.89A>T ENSP00000380908.1:p.Lys30Met
ENST00000482565.1:n.321A>T
ENST00000484216.1:n.154A>T
NM_000517.4:c.185A>T NP_000508.1:p.Lys62Met
NM_000517.6:c.185A>T MANE Select NP_000508.1:p.Lys62Met