Canonical Allele Identifier: CA276414568

Gene: HBA2

Linked Data

• dbSNP Id: rs281864558
• MyVariant Identifiers: chr16:g.223140C>T (hg19) ; chr16:g.173141C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173141C>T , CM000678.2:g.173141C>T	GRCh38
NC_000016.9:g.223140C>T , CM000678.1:g.223140C>T	GRCh37
NC_000016.8:g.163140C>T	NCBI36
NG_000006.1:g.34004C>T
NG_059186.1:g.1491C>T
NG_059271.1:g.5295C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251595.11:c.112C>T MANE Select	ENSP00000251595.6:p.Pro38Ser
ENST00000251595.10:c.112C>T	ENSP00000251595.6:p.Pro38Ser
ENST00000397806.1:c.16C>T	ENSP00000380908.1:p.Pro6Ser
ENST00000482565.1:n.248C>T
ENST00000484216.1:n.81C>T
NM_000517.4:c.112C>T	NP_000508.1:p.Pro38Ser
NM_000517.6:c.112C>T MANE Select	NP_000508.1:p.Pro38Ser