Canonical Allele Identifier: CA492994755

Gene: HBA2

Linked Data

• dbSNP Id: rs281864557
• gnomAD v2: 16-223287-C-T
• gnomAD v3: 16-173288-C-T
• gnomAD v4: 16-173288-C-T
• MyVariant Identifiers: chr16:g.223287C>T (hg19) ; chr16:g.173288C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173288C>T , CM000678.2:g.173288C>T	GRCh38
NC_000016.9:g.223287C>T , CM000678.1:g.223287C>T	GRCh37
NC_000016.8:g.163287C>T	NCBI36
NG_000006.1:g.34151C>T
NG_059186.1:g.1638C>T
NG_059271.1:g.5442C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000251595.11:c.259C>T MANE Select	ENSP00000251595.6:p.Leu87=
ENST00000251595.10:c.259C>T	ENSP00000251595.6:p.Leu87=
ENST00000397806.1:c.163C>T	ENSP00000380908.1:p.Leu55=
ENST00000482565.1:n.395C>T
ENST00000484216.1:n.228C>T
NM_000517.4:c.259C>T	NP_000508.1:p.Leu87=
NM_000517.6:c.259C>T MANE Select	NP_000508.1:p.Leu87=