Canonical Allele Identifier: CA198541

Gene: TSR2

Linked Data

• ClinVar Variation Id: 187847
• ClinVar RCV Id: RCV000167572 ; RCV000191915
• dbSNP Id: rs786203996
• MyVariant Identifiers: chrX:g.54469851A>G (hg19) ; chrX:g.54443418A>G (hg38)
• PubMed: PMID:11424144 ; PMID:24942156

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.54443418A>G , CM000685.2:g.54443418A>G	GRCh38
NC_000023.10:g.54469851A>G , CM000685.1:g.54469851A>G	GRCh37
NC_000023.9:g.54486576A>G	NCBI36
NG_051993.1:g.8044A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375151.5:c.191A>G MANE Select	ENSP00000364293.4:p.Glu64Gly
ENST00000375151.4:c.191A>G	ENSP00000364293.4:p.Glu64Gly
NM_058163.1:c.191A>G	NP_477511.1:p.Glu64Gly
NM_001346789.1:c.191A>G	NP_001333718.1:p.Glu64Gly
NM_001346790.1:c.-86A>G	NP_001333719.1:n.-86A>G
NM_001346791.1:c.-95A>G	NP_001333720.1:n.-95A>G
NM_001346792.1:c.-95A>G	NP_001333721.1:n.-95A>G
NM_058163.2:c.191A>G	NP_477511.1:p.Glu64Gly
NM_058163.3:c.191A>G MANE Select	NP_477511.1:p.Glu64Gly
NM_001346789.2:c.191A>G	NP_001333718.1:p.Glu64Gly
NM_001346790.2:c.-86A>G	NP_001333719.1:n.-86A>G
NM_001346791.2:c.-95A>G	NP_001333720.1:n.-95A>G
NM_001346792.2:c.-95A>G	NP_001333721.1:n.-95A>G