Canonical Allele Identifier: CA492994630
Gene: HBA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.223217G>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173218G>C , CM000678.2:g.173218G>C GRCh38
NC_000016.9:g.223217G>C , CM000678.1:g.223217G>C GRCh37
NC_000016.8:g.163217G>C NCBI36
NG_000006.1:g.34081G>C
NG_059186.1:g.1568G>C
NG_059271.1:g.5372G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.189G>C MANE Select ENSP00000251595.6:p.Val63=
ENST00000251595.10:c.189G>C ENSP00000251595.6:p.Val63=
ENST00000397806.1:c.93G>C ENSP00000380908.1:p.Val31=
ENST00000482565.1:n.325G>C
ENST00000484216.1:n.158G>C
NM_000517.4:c.189G>C NP_000508.1:p.Val63=
NM_000517.6:c.189G>C MANE Select NP_000508.1:p.Val63=
Search 100 bp 5'
Search 100 bp 3'