Canonical Allele Identifier: CA2200880375
Gene: HBA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.172980_172981delinsGC , CM000678.2:g.172980_172981delinsGC GRCh38
NC_000016.9:g.222979_222980delinsGC , CM000678.1:g.222979_222980delinsGC GRCh37
NC_000016.8:g.162979_162980delinsGC NCBI36
NG_000006.1:g.33843_33844delinsGC
NG_059186.1:g.1330_1331delinsGC
NG_059271.1:g.5134_5135delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.68_69delinsGC MANE Select ENSP00000251595.6:p.Gly23=
ENST00000251595.10:c.68_69delinsGC ENSP00000251595.6:p.Gly23=
ENST00000397806.1:c.-2+22_-2+23delinsGC ENSP00000380908.1:n.-2+22_-2+23delinsGC
ENST00000482565.1:n.87_88delinsGC
ENST00000484216.1:n.37_38delinsGC
NM_000517.4:c.68_69delinsGC NP_000508.1:p.Gly23=
NM_000517.6:c.68_69delinsGC MANE Select NP_000508.1:p.Gly23=