Canonical Allele Identifier: CA492994607

Gene: HBA2

Linked Data

• dbSNP Id: rs1347483985
• gnomAD v2: 16-223196-T-G
• gnomAD v3: 16-173197-T-G
• gnomAD v4: 16-173197-T-G
• MyVariant Identifiers: chr16:g.223196T>G (hg19) ; chr16:g.173197T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173197T>G , CM000678.2:g.173197T>G	GRCh38
NC_000016.9:g.223196T>G , CM000678.1:g.223196T>G	GRCh37
NC_000016.8:g.163196T>G	NCBI36
NG_000006.1:g.34060T>G
NG_059186.1:g.1547T>G
NG_059271.1:g.5351T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000251595.11:c.168T>G MANE Select	ENSP00000251595.6:p.Val56=
ENST00000251595.10:c.168T>G	ENSP00000251595.6:p.Val56=
ENST00000397806.1:c.72T>G	ENSP00000380908.1:p.Val24=
ENST00000482565.1:n.304T>G
ENST00000484216.1:n.137T>G
NM_000517.4:c.168T>G	NP_000508.1:p.Val56=
NM_000517.6:c.168T>G MANE Select	NP_000508.1:p.Val56=