Canonical Allele Identifier: CA276414737
Gene: HBA2 HGNC NCBI

Linked Data

dbSNP Id: rs281864847
MyVariant Identifiers: chr16:g.223209A>G (hg19) chr16:g.173210A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173210A>G , CM000678.2:g.173210A>G GRCh38
NC_000016.9:g.223209A>G , CM000678.1:g.223209A>G GRCh37
NC_000016.8:g.163209A>G NCBI36
NG_000006.1:g.34073A>G
NG_059186.1:g.1560A>G
NG_059271.1:g.5364A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.181A>G MANE Select ENSP00000251595.6:p.Lys61Glu
ENST00000251595.10:c.181A>G ENSP00000251595.6:p.Lys61Glu
ENST00000397806.1:c.85A>G ENSP00000380908.1:p.Lys29Glu
ENST00000482565.1:n.317A>G
ENST00000484216.1:n.150A>G
NM_000517.4:c.181A>G NP_000508.1:p.Lys61Glu
NM_000517.6:c.181A>G MANE Select NP_000508.1:p.Lys61Glu
Search 100 bp 5'
Search 100 bp 3'