Canonical Allele Identifier: CA2200880317

Gene: HBA2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.172965_172966delinsTC , CM000678.2:g.172965_172966delinsTC	GRCh38
NC_000016.9:g.222964_222965delinsTC , CM000678.1:g.222964_222965delinsTC	GRCh37
NC_000016.8:g.162964_162965delinsTC	NCBI36
NG_000006.1:g.33828_33829delinsTC
NG_059186.1:g.1315_1316delinsTC
NG_059271.1:g.5119_5120delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000251595.11:c.53_54delinsTC MANE Select	ENSP00000251595.6:p.Val18=
ENST00000251595.10:c.53_54delinsTC	ENSP00000251595.6:p.Val18=
ENST00000397806.1:c.-2+7_-2+8delinsTC	ENSP00000380908.1:n.-2+7_-2+8delinsTC
ENST00000482565.1:n.72_73delinsTC
ENST00000484216.1:n.22_23delinsTC
NM_000517.4:c.53_54delinsTC	NP_000508.1:p.Val18=
NM_000517.6:c.53_54delinsTC MANE Select	NP_000508.1:p.Val18=