Canonical Allele Identifier: CA2200880745

Gene: HBA2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173283_173284delinsGC , CM000678.2:g.173283_173284delinsGC	GRCh38
NC_000016.9:g.223282_223283delinsGC , CM000678.1:g.223282_223283delinsGC	GRCh37
NC_000016.8:g.163282_163283delinsGC	NCBI36
NG_000006.1:g.34146_34147delinsGC
NG_059186.1:g.1633_1634delinsGC
NG_059271.1:g.5437_5438delinsGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000251595.11:c.254_255delinsGC MANE Select	ENSP00000251595.6:p.Ser85=
ENST00000251595.10:c.254_255delinsGC	ENSP00000251595.6:p.Ser85=
ENST00000397806.1:c.158_159delinsGC	ENSP00000380908.1:p.Ser53=
ENST00000482565.1:n.390_391delinsGC
ENST00000484216.1:n.223_224delinsGC
NM_000517.4:c.254_255delinsGC	NP_000508.1:p.Ser85=
NM_000517.6:c.254_255delinsGC MANE Select	NP_000508.1:p.Ser85=