Canonical Allele Identifier: CA425360186
Gene: OSR1 HGNC NCBI

Linked Data

gnomAD v4: 2-19353154-G-A
MyVariant Identifiers: chr2:g.19552915G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.19353154G>A , CM000664.2:g.19353154G>A GRCh38
NC_000002.11:g.19552915G>A , CM000664.1:g.19552915G>A GRCh37
NC_000002.10:g.19416396G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272223.3:c.652C>T MANE Select ENSP00000272223.2:p.Leu218=
ENST00000272223.2:c.652C>T ENSP00000272223.2:p.Leu218=
ENST00000487581.1:n.3759C>T
NM_145260.2:c.652C>T NP_660303.1:p.Leu218=
XM_006711942.2:c.652C>T XP_006712005.1:p.Leu218=
XM_006711942.4:c.652C>T XP_006712005.1:p.Leu218=
NM_145260.3:c.652C>T MANE Select NP_660303.1:p.Leu218=
Search 100 bp 5'
Search 100 bp 3'