Canonical Allele Identifier: CA973581895
Gene: HBA2 HGNC NCBI

Linked Data

dbSNP Id: rs1902041531
gnomAD v3: 16-173096-C-T
gnomAD v4: 16-173096-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173096C>T , CM000678.2:g.173096C>T GRCh38
NC_000016.9:g.223095C>T , CM000678.1:g.223095C>T GRCh37
NC_000016.8:g.163095C>T NCBI36
NG_000006.1:g.33959C>T
NG_059186.1:g.1446C>T
NG_059271.1:g.5250C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.96-29C>T MANE Select ENSP00000251595.6:n.96-29C>T
ENST00000251595.10:c.96-29C>T ENSP00000251595.6:n.96-29C>T
ENST00000397806.1:c.-1-29C>T ENSP00000380908.1:n.-1-29C>T
ENST00000482565.1:n.203C>T
ENST00000484216.1:n.65-29C>T
NM_000517.4:c.96-29C>T NP_000508.1:n.96-29C>T
NM_000517.6:c.96-29C>T MANE Select NP_000508.1:n.96-29C>T