Canonical Allele Identifier: CA2499223248

Gene: HBA2

Linked Data

• ClinVar Variation Id: 1098491
• ClinVar RCV Id: RCV001420424
• dbSNP Id: rs2142018005

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173239_173240insT , CM000678.2:g.173239_173240insT	GRCh38
NC_000016.9:g.223238_223239insT , CM000678.1:g.223238_223239insT	GRCh37
NC_000016.8:g.163238_163239insT	NCBI36
NG_000006.1:g.34102_34103insT
NG_059186.1:g.1589_1590insT
NG_059271.1:g.5393_5394insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251595.11:c.210_211insT MANE Select	ENSP00000251595.6:p.Val71CysfsTer?
ENST00000251595.10:c.210_211insT	ENSP00000251595.6:p.Val71CysfsTer?
ENST00000397806.1:c.114_115insT	ENSP00000380908.1:p.Val39CysfsTer?
ENST00000482565.1:n.346_347insT
ENST00000484216.1:n.179_180insT
NM_000517.4:c.210_211insT	NP_000508.1:p.Val71CysfsTer?
NM_000517.6:c.210_211insT MANE Select	NP_000508.1:p.Val71CysfsTer?