Canonical Allele Identifier: CA393993046
Gene: HBA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.172959G>C , CM000678.2:g.172959G>C GRCh38
NC_000016.9:g.222958G>C , CM000678.1:g.222958G>C GRCh37
NC_000016.8:g.162958G>C NCBI36
NG_000006.1:g.33822G>C
NG_059186.1:g.1309G>C
NG_059271.1:g.5113G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.47G>C MANE Select ENSP00000251595.6:p.Gly16Ala
ENST00000251595.10:c.47G>C ENSP00000251595.6:p.Gly16Ala
ENST00000397806.1:c.-2+1G>C ENSP00000380908.1:n.-2+1G>C
ENST00000482565.1:n.66G>C
ENST00000484216.1:n.16G>C
NM_000517.4:c.47G>C NP_000508.1:p.Gly16Ala
NM_000517.6:c.47G>C MANE Select NP_000508.1:p.Gly16Ala