Canonical Allele Identifier: CA2589876408
Gene: HBA2 HGNC NCBI

Linked Data

gnomAD v3: 16-172906-A-C
gnomAD v4: 16-172906-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.172906A>C , CM000678.2:g.172906A>C GRCh38
NC_000016.9:g.222905A>C , CM000678.1:g.222905A>C GRCh37
NC_000016.8:g.162905A>C NCBI36
NG_000006.1:g.33769A>C
NG_059186.1:g.1256A>C
NG_059271.1:g.5060A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.-7A>C MANE Select ENSP00000251595.6:n.-7A>C
ENST00000251595.10:c.-7A>C ENSP00000251595.6:n.-7A>C
ENST00000397806.1:c.-54A>C ENSP00000380908.1:n.-54A>C
ENST00000482565.1:n.13A>C
NM_000517.4:c.-7A>C NP_000508.1:n.-7A>C
NM_000517.6:c.-7A>C MANE Select NP_000508.1:n.-7A>C