Canonical Allele Identifier: CA393993203

Gene: HBA2

Linked Data

• ClinVar Variation Id: 439126
• ClinVar RCV Id: RCV000507864 ; RCV001000976 ; RCV001829445
• dbSNP Id: rs63750158
• gnomAD v2: 16-223007-G-A
• gnomAD v4: 16-173008-G-A
• MyVariant Identifiers: chr16:g.223007G>A (hg19) ; chr16:g.173008G>A (hg38)
• PubMed: PMID:10997982 ; PMID:19958200 ; PMID:21967524 ; PMID:24081251

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173008G>A , CM000678.2:g.173008G>A	GRCh38
NC_000016.9:g.223007G>A , CM000678.1:g.223007G>A	GRCh37
NC_000016.8:g.163007G>A	NCBI36
NG_000006.1:g.33871G>A
NG_059186.1:g.1358G>A
NG_059271.1:g.5162G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251595.11:c.95+1G>A MANE Select	ENSP00000251595.6:n.95+1G>A
ENST00000251595.10:c.95+1G>A	ENSP00000251595.6:n.95+1G>A
ENST00000397806.1:c.-2+50G>A	ENSP00000380908.1:n.-2+50G>A
ENST00000482565.1:n.115G>A
ENST00000484216.1:n.64+1G>A
NM_000517.4:c.95+1G>A	NP_000508.1:n.95+1G>A
NM_000517.6:c.95+1G>A MANE Select	NP_000508.1:n.95+1G>A