Canonical Allele Identifier: CA393994536
Gene: HBA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173535G>T , CM000678.2:g.173535G>T GRCh38
NC_000016.9:g.223534G>T , CM000678.1:g.223534G>T GRCh37
NC_000016.8:g.163534G>T NCBI36
NG_000006.1:g.34398G>T
NG_059186.1:g.1885G>T
NG_059271.1:g.5689G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.364G>T MANE Select ENSP00000251595.6:p.Val122Leu
ENST00000251595.10:c.364G>T ENSP00000251595.6:p.Val122Leu
ENST00000397806.1:c.268G>T ENSP00000380908.1:p.Val90Leu
ENST00000482565.1:n.500G>T
NM_000517.4:c.364G>T NP_000508.1:p.Val122Leu
NM_000517.6:c.364G>T MANE Select NP_000508.1:p.Val122Leu