Canonical Allele Identifier: CA492785524
Gene: HBA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.223569G>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173570G>T , CM000678.2:g.173570G>T GRCh38
NC_000016.9:g.223569G>T , CM000678.1:g.223569G>T GRCh37
NC_000016.8:g.163569G>T NCBI36
NG_000006.1:g.34433G>T
NG_059186.1:g.1920G>T
NG_059271.1:g.5724G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.399G>T MANE Select ENSP00000251595.6:p.Val133=
ENST00000251595.10:c.399G>T ENSP00000251595.6:p.Val133=
ENST00000397806.1:c.303G>T ENSP00000380908.1:p.Val101=
ENST00000482565.1:n.535G>T
NM_000517.4:c.399G>T NP_000508.1:p.Val133=
NM_000517.6:c.399G>T MANE Select NP_000508.1:p.Val133=
Search 100 bp 5'
Search 100 bp 3'