Canonical Allele Identifier: CA492994557
Gene: HBA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.223163G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173164G>C , CM000678.2:g.173164G>C GRCh38
NC_000016.9:g.223163G>C , CM000678.1:g.223163G>C GRCh37
NC_000016.8:g.163163G>C NCBI36
NG_000006.1:g.34027G>C
NG_059186.1:g.1514G>C
NG_059271.1:g.5318G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.135G>C MANE Select ENSP00000251595.6:p.Pro45=
ENST00000251595.10:c.135G>C ENSP00000251595.6:p.Pro45=
ENST00000397806.1:c.39G>C ENSP00000380908.1:p.Pro13=
ENST00000482565.1:n.271G>C
ENST00000484216.1:n.104G>C
NM_000517.4:c.135G>C NP_000508.1:p.Pro45=
NM_000517.6:c.135G>C MANE Select NP_000508.1:p.Pro45=