Canonical Allele Identifier: CA276414673
Gene: HBA2 HGNC NCBI

Linked Data

dbSNP Id: rs281864835
MyVariant Identifiers: chr16:g.223180A>G (hg19) chr16:g.173181A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173181A>G , CM000678.2:g.173181A>G GRCh38
NC_000016.9:g.223180A>G , CM000678.1:g.223180A>G GRCh37
NC_000016.8:g.163180A>G NCBI36
NG_000006.1:g.34044A>G
NG_059186.1:g.1531A>G
NG_059271.1:g.5335A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.152A>G MANE Select ENSP00000251595.6:p.His51Arg
ENST00000251595.10:c.152A>G ENSP00000251595.6:p.His51Arg
ENST00000397806.1:c.56A>G ENSP00000380908.1:p.His19Arg
ENST00000482565.1:n.288A>G
ENST00000484216.1:n.121A>G
NM_000517.4:c.152A>G NP_000508.1:p.His51Arg
NM_000517.6:c.152A>G MANE Select NP_000508.1:p.His51Arg
Search 100 bp 5'
Search 100 bp 3'