Canonical Allele Identifier: CA125571
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 15637
dbSNP Id: rs41392146
gnomAD v3: 16-173175-T-G
gnomAD v4: 16-173175-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173175T>G , CM000678.2:g.173175T>G GRCh38
NC_000016.9:g.223174T>G , CM000678.1:g.223174T>G GRCh37
NC_000016.8:g.163174T>G NCBI36
NG_000006.1:g.34038T>G
NG_059186.1:g.1525T>G
NG_059271.1:g.5329T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.146T>G MANE Select ENSP00000251595.6:p.Leu49Arg
ENST00000251595.10:c.146T>G ENSP00000251595.6:p.Leu49Arg
ENST00000397806.1:c.50T>G ENSP00000380908.1:p.Leu17Arg
ENST00000482565.1:n.282T>G
ENST00000484216.1:n.115T>G
NM_000517.4:c.146T>G NP_000508.1:p.Leu49Arg
NM_000517.6:c.146T>G MANE Select NP_000508.1:p.Leu49Arg