Canonical Allele Identifier: CA393993504

Gene: HBA2

Linked Data

• MyVariant Identifiers: chr16:g.223215G>T (hg19) ; chr16:g.173216G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173216G>T , CM000678.2:g.173216G>T	GRCh38
NC_000016.9:g.223215G>T , CM000678.1:g.223215G>T	GRCh37
NC_000016.8:g.163215G>T	NCBI36
NG_000006.1:g.34079G>T
NG_059186.1:g.1566G>T
NG_059271.1:g.5370G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000251595.11:c.187G>T MANE Select	ENSP00000251595.6:p.Val63Leu
ENST00000251595.10:c.187G>T	ENSP00000251595.6:p.Val63Leu
ENST00000397806.1:c.91G>T	ENSP00000380908.1:p.Val31Leu
ENST00000482565.1:n.323G>T
ENST00000484216.1:n.156G>T
NM_000517.4:c.187G>T	NP_000508.1:p.Val63Leu
NM_000517.6:c.187G>T MANE Select	NP_000508.1:p.Val63Leu