Canonical Allele Identifier: CA342383
Gene: SH3TC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 21697
ClinVar RCV Id: RCV000020895 RCV000790263
dbSNP Id: rs80338918
MyVariant Identifiers: chr5:g.148442558del (hg19) chr5:g.149062995del (hg38)
PubMed: PMID:14574644 PMID:20301514
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149062997del , CM000667.2:g.149062997del GRCh38
NC_000005.9:g.148442560del , CM000667.1:g.148442560del GRCh37
NC_000005.8:g.148422753del NCBI36
NG_007947.2:g.5180del , LRG_269:g.5180del

Transcript Alleles

HGVS Amino-acid change
ENST00000515425.6:c.28del MANE Select ENSP00000423660.1:p.Glu10SerfsTer4
ENST00000674983.1:c.28del ENSP00000502387.1:p.Glu10SerfsTer4
ENST00000675793.1:c.28del ENSP00000502039.1:p.Glu10SerfsTer4
ENST00000676056.1:c.28del ENSP00000501827.1:p.Glu10SerfsTer4
ENST00000323829.9:c.28del ENSP00000313025.5:p.Glu10SerfsTer4
ENST00000504091.1:n.64del
ENST00000504690.5:c.28del ENSP00000425627.1:p.Glu10SerfsTer4
ENST00000511307.5:c.28del ENSP00000421420.1:p.Glu10SerfsTer4
ENST00000511949.5:n.68del
ENST00000512049.5:c.28del ENSP00000421860.1:p.Glu10SerfsTer4
ENST00000513604.5:c.28del ENSP00000423111.1:p.Glu10SerfsTer4
ENST00000515425.5:c.28del ENSP00000423660.1:p.Glu10SerfsTer4
NM_024577.3:c.28del , LRG_269t1:c.28del NP_078853.2:p.Glu10SerfsTer4
NM_024577.4:c.28del MANE Select NP_078853.2:p.Glu10SerfsTer4
Search 100 bp 5'
Search 100 bp 3'