Canonical Allele Identifier: CA276414606
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 15743
ClinVar RCV Id: RCV000017048
dbSNP Id: rs41491146
gnomAD v4: 16-173161-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173161C>G , CM000678.2:g.173161C>G GRCh38
NC_000016.9:g.223160C>G , CM000678.1:g.223160C>G GRCh37
NC_000016.8:g.163160C>G NCBI36
NG_000006.1:g.34024C>G
NG_059186.1:g.1511C>G
NG_059271.1:g.5315C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.132C>G MANE Select ENSP00000251595.6:p.Phe44Leu
ENST00000251595.10:c.132C>G ENSP00000251595.6:p.Phe44Leu
ENST00000397806.1:c.36C>G ENSP00000380908.1:p.Phe12Leu
ENST00000482565.1:n.268C>G
ENST00000484216.1:n.101C>G
NM_000517.4:c.132C>G NP_000508.1:p.Phe44Leu
NM_000517.6:c.132C>G MANE Select NP_000508.1:p.Phe44Leu