Canonical Allele Identifier: CA1542339

Gene: OSR1

Linked Data

• dbSNP Id: rs781224648
• ExAC: 2:19552919 G / A
• gnomAD v2: 2-19552919-G-A
• gnomAD v3: 2-19353158-G-A
• gnomAD v4: 2-19353158-G-A
• MyVariant Identifiers: chr2:g.19552919G>A (hg19) ; chr2:g.19353158G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.19353158G>A , CM000664.2:g.19353158G>A	GRCh38
NC_000002.11:g.19552919G>A , CM000664.1:g.19552919G>A	GRCh37
NC_000002.10:g.19416400G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000272223.3:c.648C>T MANE Select	ENSP00000272223.2:p.Asp216=
ENST00000272223.2:c.648C>T	ENSP00000272223.2:p.Asp216=
ENST00000487581.1:n.3755C>T
NM_145260.2:c.648C>T	NP_660303.1:p.Asp216=
XM_006711942.2:c.648C>T	XP_006712005.1:p.Asp216=
XM_006711942.4:c.648C>T	XP_006712005.1:p.Asp216=
NM_145260.3:c.648C>T MANE Select	NP_660303.1:p.Asp216=