Canonical Allele Identifier: CA393994668

Gene: HBA2

Linked Data

• COSMIC: COSM6144141
• MyVariant Identifiers: chr16:g.223583C>T (hg19) ; chr16:g.173584C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173584C>T , CM000678.2:g.173584C>T	GRCh38
NC_000016.9:g.223583C>T , CM000678.1:g.223583C>T	GRCh37
NC_000016.8:g.163583C>T	NCBI36
NG_000006.1:g.34447C>T
NG_059186.1:g.1934C>T
NG_059271.1:g.5738C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251595.11:c.413C>T MANE Select	ENSP00000251595.6:p.Thr138Ile
ENST00000251595.10:c.413C>T	ENSP00000251595.6:p.Thr138Ile
ENST00000397806.1:c.317C>T	ENSP00000380908.1:p.Thr106Ile
ENST00000482565.1:n.549C>T
NM_000517.4:c.413C>T	NP_000508.1:p.Thr138Ile
NM_000517.6:c.413C>T MANE Select	NP_000508.1:p.Thr138Ile