Canonical Allele Identifier: CA393994619
Gene: HBA2 HGNC NCBI

Linked Data

gnomAD v4: 16-173565-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173565T>A , CM000678.2:g.173565T>A GRCh38
NC_000016.9:g.223564T>A , CM000678.1:g.223564T>A GRCh37
NC_000016.8:g.163564T>A NCBI36
NG_000006.1:g.34428T>A
NG_059186.1:g.1915T>A
NG_059271.1:g.5719T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.394T>A MANE Select ENSP00000251595.6:p.Ser132Thr
ENST00000251595.10:c.394T>A ENSP00000251595.6:p.Ser132Thr
ENST00000397806.1:c.298T>A ENSP00000380908.1:p.Ser100Thr
ENST00000482565.1:n.530T>A
NM_000517.4:c.394T>A NP_000508.1:p.Ser132Thr
NM_000517.6:c.394T>A MANE Select NP_000508.1:p.Ser132Thr