Canonical Allele Identifier: CA393994447
Gene: HBA2 HGNC NCBI

Linked Data

dbSNP Id: rs41479844
gnomAD v3: 16-173500-T-C
gnomAD v4: 16-173500-T-C
MyVariant Identifiers: chr16:g.223499T>C (hg19) chr16:g.173500T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173500T>C , CM000678.2:g.173500T>C GRCh38
NC_000016.9:g.223499T>C , CM000678.1:g.223499T>C GRCh37
NC_000016.8:g.163499T>C NCBI36
NG_000006.1:g.34363T>C
NG_059186.1:g.1850T>C
NG_059271.1:g.5654T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.329T>C MANE Select ENSP00000251595.6:p.Leu110Pro
ENST00000251595.10:c.329T>C ENSP00000251595.6:p.Leu110Pro
ENST00000397806.1:c.233T>C ENSP00000380908.1:p.Leu78Pro
ENST00000482565.1:n.465T>C
NM_000517.4:c.329T>C NP_000508.1:p.Leu110Pro
NM_000517.6:c.329T>C MANE Select NP_000508.1:p.Leu110Pro
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