Canonical Allele Identifier: CA492994189
Gene: HBA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.222959T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.172960T>C , CM000678.2:g.172960T>C GRCh38
NC_000016.9:g.222959T>C , CM000678.1:g.222959T>C GRCh37
NC_000016.8:g.162959T>C NCBI36
NG_000006.1:g.33823T>C
NG_059186.1:g.1310T>C
NG_059271.1:g.5114T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.48T>C MANE Select ENSP00000251595.6:p.Gly16=
ENST00000251595.10:c.48T>C ENSP00000251595.6:p.Gly16=
ENST00000397806.1:c.-2+2T>C ENSP00000380908.1:n.-2+2T>C
ENST00000482565.1:n.67T>C
ENST00000484216.1:n.17T>C
NM_000517.4:c.48T>C NP_000508.1:p.Gly16=
NM_000517.6:c.48T>C MANE Select NP_000508.1:p.Gly16=