Canonical Allele Identifier: CA1590312577
Gene: SH3TC2 HGNC NCBI

Linked Data

dbSNP Id: rs1754097091

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149027733_149027746del , CM000667.2:g.149027733_149027746del GRCh38
NC_000005.9:g.148407296_148407309del , CM000667.1:g.148407296_148407309del GRCh37
NC_000005.8:g.148387489_148387502del NCBI36
NG_007947.2:g.40431_40444del , LRG_269:g.40431_40444del

Transcript Alleles

HGVS Amino-acid Change
ENST00000502274.2:c.1884_1897del
ENST00000515425.6:c.1988_2001del MANE Select ENSP00000423660.1:p.Ser663CysfsTer3
ENST00000675793.1:c.*1272_*1285del ENSP00000502039.1:n.*1272_*1285del
ENST00000676056.1:c.*1498_*1511del ENSP00000501827.1:n.*1498_*1511del
ENST00000323829.9:c.*1376_*1389del ENSP00000313025.5:n.*1376_*1389del
ENST00000504517.5:c.1518_1531del ENSP00000421779.1:n.1518_1531del
ENST00000504690.5:c.1988_2001del ENSP00000425627.1:p.Ser663CysfsTer3
ENST00000510779.1:c.1038_1051del
ENST00000511307.5:c.*1768_*1781del ENSP00000421420.1:n.*1768_*1781del
ENST00000512049.5:c.1967_1980del ENSP00000421860.1:p.Ser656CysfsTer3
ENST00000513604.5:c.*1376_*1389del ENSP00000423111.1:n.*1376_*1389del
ENST00000515425.5:c.1988_2001del ENSP00000423660.1:p.Ser663CysfsTer3
NM_024577.3:c.1988_2001del , LRG_269t1:c.1988_2001del NP_078853.2:p.Ser663CysfsTer3
NM_024577.4:c.1988_2001del MANE Select NP_078853.2:p.Ser663CysfsTer3