Canonical Allele Identifier: CA346226329
Gene: OSR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.19552921C>G (hg19) chr2:g.19353160C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.19353160C>G , CM000664.2:g.19353160C>G GRCh38
NC_000002.11:g.19552921C>G , CM000664.1:g.19552921C>G GRCh37
NC_000002.10:g.19416402C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272223.3:c.646G>C MANE Select ENSP00000272223.2:p.Asp216His
ENST00000272223.2:c.646G>C ENSP00000272223.2:p.Asp216His
ENST00000487581.1:n.3753G>C
NM_145260.2:c.646G>C NP_660303.1:p.Asp216His
XM_006711942.2:c.646G>C XP_006712005.1:p.Asp216His
XM_006711942.4:c.646G>C XP_006712005.1:p.Asp216His
NM_145260.3:c.646G>C MANE Select NP_660303.1:p.Asp216His
Search 100 bp 5'
Search 100 bp 3'