Canonical Allele Identifier: CA2200880321

Gene: HBA2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.172966_172967delinsCG , CM000678.2:g.172966_172967delinsCG	GRCh38
NC_000016.9:g.222965_222966delinsCG , CM000678.1:g.222965_222966delinsCG	GRCh37
NC_000016.8:g.162965_162966delinsCG	NCBI36
NG_000006.1:g.33829_33830delinsCG
NG_059186.1:g.1316_1317delinsCG
NG_059271.1:g.5120_5121delinsCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000251595.11:c.54_55delinsCG MANE Select	ENSP00000251595.6:p.Val18=
ENST00000251595.10:c.54_55delinsCG	ENSP00000251595.6:p.Val18=
ENST00000397806.1:c.-2+8_-2+9delinsCG	ENSP00000380908.1:n.-2+8_-2+9delinsCG
ENST00000482565.1:n.73_74delinsCG
ENST00000484216.1:n.23_24delinsCG
NM_000517.4:c.54_55delinsCG	NP_000508.1:p.Val18=
NM_000517.6:c.54_55delinsCG MANE Select	NP_000508.1:p.Val18=