Canonical Allele Identifier: CA393993066
Gene: HBA2 HGNC NCBI

Linked Data

gnomAD v3: 16-172967-G-A
gnomAD v4: 16-172967-G-A
MyVariant Identifiers: chr16:g.222966G>A (hg19) chr16:g.172967G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.172967G>A , CM000678.2:g.172967G>A GRCh38
NC_000016.9:g.222966G>A , CM000678.1:g.222966G>A GRCh37
NC_000016.8:g.162966G>A NCBI36
NG_000006.1:g.33830G>A
NG_059186.1:g.1317G>A
NG_059271.1:g.5121G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.55G>A MANE Select ENSP00000251595.6:p.Gly19Ser
ENST00000251595.10:c.55G>A ENSP00000251595.6:p.Gly19Ser
ENST00000397806.1:c.-2+9G>A ENSP00000380908.1:n.-2+9G>A
ENST00000482565.1:n.74G>A
ENST00000484216.1:n.24G>A
NM_000517.4:c.55G>A NP_000508.1:p.Gly19Ser
NM_000517.6:c.55G>A MANE Select NP_000508.1:p.Gly19Ser
Search 100 bp 5'
Search 100 bp 3'