Canonical Allele Identifier: CA16602272

Gene: HBA2

Linked Data

• ClinVar Variation Id: 375749
• ClinVar RCV Id: RCV000417217 ; RCV001800666 ; RCV002502453 ; RCV003989109 ; RCV004017607
• dbSNP Id: rs63751269
• gnomAD v4: 16-173694-A-G
• MyVariant Identifiers: chr16:g.223693A>G (hg19) ; chr16:g.173694A>G (hg38)
• PubMed: PMID:20301608

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173694A>G , CM000678.2:g.173694A>G	GRCh38
NC_000016.9:g.223693A>G , CM000678.1:g.223693A>G	GRCh37
NC_000016.8:g.163693A>G	NCBI36
NG_000006.1:g.34557A>G
NG_059186.1:g.2044A>G
NG_059271.1:g.5848A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251595.11:c.*94A>G MANE Select	ENSP00000251595.6:n.*94A>G
ENST00000251595.10:c.*94A>G	ENSP00000251595.6:n.*94A>G
ENST00000397806.1:c.*94A>G	ENSP00000380908.1:n.*94A>G
NM_000517.4:c.*94A>G	NP_000508.1:n.*94A>G
NM_000517.6:c.*94A>G MANE Select	NP_000508.1:n.*94A>G