Canonical Allele Identifier: CA1590321535
Gene: SH3TC2 HGNC NCBI

Linked Data

dbSNP Id: rs1754494186

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149047931_149047932insCCTATTAGCAGCATGACAC , CM000667.2:g.149047931_149047932insCCTATTAGCAGCATGACAC GRCh38
NC_000005.9:g.148427494_148427495insCCTATTAGCAGCATGACAC , CM000667.1:g.148427494_148427495insCCTATTAGCAGCATGACAC GRCh37
NC_000005.8:g.148407687_148407688insCCTATTAGCAGCATGACAC NCBI36
NG_007947.2:g.20243_20244insGTGTCATGCTGCTAATAGG , LRG_269:g.20243_20244insGTGTCATGCTGCTAATAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000502274.2:c.157_158insGTGTCATGCTGCTAATAGG
ENST00000515425.6:c.209_210insGTGTCATGCTGCTAATAGG MANE Select ENSP00000423660.1:p.Gln71CysfsTer20
ENST00000674983.1:c.209_210insGTGTCATGCTGCTAATAGG ENSP00000502387.1:p.Gln71CysfsTer20
ENST00000675793.1:c.209_210insGTGTCATGCTGCTAATAGG ENSP00000502039.1:p.Gln71CysfsTer20
ENST00000676056.1:c.209_210insGTGTCATGCTGCTAATAGG ENSP00000501827.1:p.Gln71CysfsTer20
ENST00000323829.9:c.209_210insGTGTCATGCTGCTAATAGG ENSP00000313025.5:p.Gln71CysfsTer20
ENST00000504091.1:n.245_246insGTGTCATGCTGCTAATAGG
ENST00000504690.5:c.209_210insGTGTCATGCTGCTAATAGG ENSP00000425627.1:p.Gln71CysfsTer20
ENST00000511307.5:c.209_210insGTGTCATGCTGCTAATAGG ENSP00000421420.1:p.Gln71CysfsTer20
ENST00000511949.5:n.279_280insGTGTCATGCTGCTAATAGG
ENST00000512049.5:c.209_210insGTGTCATGCTGCTAATAGG ENSP00000421860.1:p.Gln71CysfsTer20
ENST00000513604.5:c.209_210insGTGTCATGCTGCTAATAGG ENSP00000423111.1:p.Gln71CysfsTer20
ENST00000515425.5:c.209_210insGTGTCATGCTGCTAATAGG ENSP00000423660.1:p.Gln71CysfsTer20
NM_024577.3:c.209_210insGTGTCATGCTGCTAATAGG , LRG_269t1:c.209_210insGTGTCATGCTGCTAATAGG NP_078853.2:p.Gln71CysfsTer20
NM_024577.4:c.209_210insGTGTCATGCTGCTAATAGG MANE Select NP_078853.2:p.Gln71CysfsTer20