Canonical Allele Identifier: CA620304249

Gene: HBA2

Linked Data

• dbSNP Id: rs1349381353
• gnomAD v2: 16-223057-A-G
• MyVariant Identifiers: chr16:g.223057A>G (hg19) ; chr16:g.173058A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173058A>G , CM000678.2:g.173058A>G	GRCh38
NC_000016.9:g.223057A>G , CM000678.1:g.223057A>G	GRCh37
NC_000016.8:g.163057A>G	NCBI36
NG_000006.1:g.33921A>G
NG_059186.1:g.1408A>G
NG_059271.1:g.5212A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251595.11:c.95+51A>G MANE Select	ENSP00000251595.6:n.95+51A>G
ENST00000251595.10:c.95+51A>G	ENSP00000251595.6:n.95+51A>G
ENST00000397806.1:c.-1-67A>G	ENSP00000380908.1:n.-1-67A>G
ENST00000482565.1:n.165A>G
ENST00000484216.1:n.64+51A>G
NM_000517.4:c.95+51A>G	NP_000508.1:n.95+51A>G
NM_000517.6:c.95+51A>G MANE Select	NP_000508.1:n.95+51A>G