Canonical Allele Identifier: CA393993653
Gene: HBA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.223257A>C (hg19) chr16:g.173258A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173258A>C , CM000678.2:g.173258A>C GRCh38
NC_000016.9:g.223257A>C , CM000678.1:g.223257A>C GRCh37
NC_000016.8:g.163257A>C NCBI36
NG_000006.1:g.34121A>C
NG_059186.1:g.1608A>C
NG_059271.1:g.5412A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.229A>C MANE Select ENSP00000251595.6:p.Met77Leu
ENST00000251595.10:c.229A>C ENSP00000251595.6:p.Met77Leu
ENST00000397806.1:c.133A>C ENSP00000380908.1:p.Met45Leu
ENST00000482565.1:n.365A>C
ENST00000484216.1:n.198A>C
NM_000517.4:c.229A>C NP_000508.1:p.Met77Leu
NM_000517.6:c.229A>C MANE Select NP_000508.1:p.Met77Leu
Search 100 bp 5'
Search 100 bp 3'