Canonical Allele Identifier: CA2573139254

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 1347096
• ClinVar RCV Id: RCV002032978
• dbSNP Id: rs2127396888

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026683_149026685dup , CM000667.2:g.149026683_149026685dup	GRCh38
NC_000005.9:g.148406246_148406248dup , CM000667.1:g.148406246_148406248dup	GRCh37
NC_000005.8:g.148386439_148386441dup	NCBI36
NG_007947.2:g.41492_41494dup , LRG_269:g.41492_41494dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2838_2840dup
ENST00000515425.6:c.2942_2944dup MANE Select	ENSP00000423660.1:p.Ile981_Thr982insIle
ENST00000675793.1:c.*2226_*2228dup	ENSP00000502039.1:n.*2226_*2228dup
ENST00000676056.1:c.*2452_*2454dup	ENSP00000501827.1:n.*2452_*2454dup
ENST00000323829.9:c.*2330_*2332dup	ENSP00000313025.5:n.*2330_*2332dup
ENST00000504517.5:c.2472_2474dup	ENSP00000421779.1:n.2472_2474dup
ENST00000504690.5:c.2942_2944dup	ENSP00000425627.1:p.Ile981_Thr982insIle
ENST00000510779.1:c.1992_1994dup
ENST00000511307.5:c.*2829_*2831dup	ENSP00000421420.1:n.*2829_*2831dup
ENST00000512049.5:c.2921_2923dup	ENSP00000421860.1:p.Ile974_Thr975insIle
ENST00000513604.5:c.*2437_*2439dup	ENSP00000423111.1:n.*2437_*2439dup
ENST00000515425.5:c.2942_2944dup	ENSP00000423660.1:p.Ile981_Thr982insIle
NM_024577.3:c.2942_2944dup , LRG_269t1:c.2942_2944dup	NP_078853.2:p.Ile981_Thr982insIle
NM_024577.4:c.2942_2944dup MANE Select	NP_078853.2:p.Ile981_Thr982insIle