Canonical Allele Identifier: CA2200880842

Gene: HBA2

Linked Data

• ClinVar Variation Id: 1330106
• ClinVar RCV Id: RCV001801123
• dbSNP Id: rs1902055654
• gnomAD v3: 16-173412-G-A
• gnomAD v4: 16-173412-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173412G>A , CM000678.2:g.173412G>A	GRCh38
NC_000016.9:g.223411G>A , CM000678.1:g.223411G>A	GRCh37
NC_000016.8:g.163411G>A	NCBI36
NG_000006.1:g.34275G>A
NG_059186.1:g.1762G>A
NG_059271.1:g.5566G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000251595.11:c.301-60G>A MANE Select	ENSP00000251595.6:n.301-60G>A
ENST00000251595.10:c.301-60G>A	ENSP00000251595.6:n.301-60G>A
ENST00000397806.1:c.205-60G>A	ENSP00000380908.1:n.205-60G>A
ENST00000482565.1:n.437-60G>A
ENST00000484216.1:n.352G>A
NM_000517.4:c.301-60G>A	NP_000508.1:n.301-60G>A
NM_000517.6:c.301-60G>A MANE Select	NP_000508.1:n.301-60G>A