Canonical Allele Identifier: CA346226302

Gene: OSR1

Linked Data

• gnomAD v4: 2-19353148-C-A
• MyVariant Identifiers: chr2:g.19552909C>A (hg19) ; chr2:g.19353148C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.19353148C>A , CM000664.2:g.19353148C>A	GRCh38
NC_000002.11:g.19552909C>A , CM000664.1:g.19552909C>A	GRCh37
NC_000002.10:g.19416390C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272223.3:c.658G>T MANE Select	ENSP00000272223.2:p.Asp220Tyr
ENST00000272223.2:c.658G>T	ENSP00000272223.2:p.Asp220Tyr
ENST00000487581.1:n.3765G>T
NM_145260.2:c.658G>T	NP_660303.1:p.Asp220Tyr
XM_006711942.2:c.658G>T	XP_006712005.1:p.Asp220Tyr
XM_006711942.4:c.658G>T	XP_006712005.1:p.Asp220Tyr
NM_145260.3:c.658G>T MANE Select	NP_660303.1:p.Asp220Tyr