Canonical Allele Identifier: CA393994636
Gene: HBA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173572G>C , CM000678.2:g.173572G>C GRCh38
NC_000016.9:g.223571G>C , CM000678.1:g.223571G>C GRCh37
NC_000016.8:g.163571G>C NCBI36
NG_000006.1:g.34435G>C
NG_059186.1:g.1922G>C
NG_059271.1:g.5726G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.401G>C MANE Select ENSP00000251595.6:p.Ser134Thr
ENST00000251595.10:c.401G>C ENSP00000251595.6:p.Ser134Thr
ENST00000397806.1:c.305G>C ENSP00000380908.1:p.Ser102Thr
ENST00000482565.1:n.537G>C
NM_000517.4:c.401G>C NP_000508.1:p.Ser134Thr
NM_000517.6:c.401G>C MANE Select NP_000508.1:p.Ser134Thr