Canonical Allele Identifier: CA43713057

Gene: OSR1

Linked Data

• dbSNP Id: rs987548630
• gnomAD v2: 2-19552822-G-T
• gnomAD v3: 2-19353061-G-T
• gnomAD v4: 2-19353061-G-T
• MyVariant Identifiers: chr2:g.19552822G>T (hg19) ; chr2:g.19353061G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.19353061G>T , CM000664.2:g.19353061G>T	GRCh38
NC_000002.11:g.19552822G>T , CM000664.1:g.19552822G>T	GRCh37
NC_000002.10:g.19416303G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272223.3:c.665+80C>A MANE Select	ENSP00000272223.2:n.665+80C>A
ENST00000272223.2:c.665+80C>A	ENSP00000272223.2:n.665+80C>A
ENST00000487581.1:n.3772+80C>A
NM_145260.2:c.665+80C>A	NP_660303.1:n.665+80C>A
XM_006711942.2:c.665+80C>A	XP_006712005.1:n.665+80C>A
XM_006711942.4:c.665+80C>A	XP_006712005.1:n.665+80C>A
NM_145260.3:c.665+80C>A MANE Select	NP_660303.1:n.665+80C>A