Canonical Allele Identifier: CA2843640761

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026864dup , CM000667.2:g.149026864dup	GRCh38
NC_000005.9:g.148406427dup , CM000667.1:g.148406427dup	GRCh37
NC_000005.8:g.148386620dup	NCBI36
NG_007947.2:g.41313dup , LRG_269:g.41313dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2766dup
ENST00000515425.6:c.2870dup MANE Select	ENSP00000423660.1:p.Ser958GlufsTer21
ENST00000675793.1:c.*2154dup	ENSP00000502039.1:n.*2154dup
ENST00000676056.1:c.*2380dup	ENSP00000501827.1:n.*2380dup
ENST00000323829.9:c.*2258dup	ENSP00000313025.5:n.*2258dup
ENST00000504517.5:c.2400dup	ENSP00000421779.1:n.2400dup
ENST00000504690.5:c.2870dup	ENSP00000425627.1:p.Ser958GlufsTer21
ENST00000510779.1:c.1920dup
ENST00000511307.5:c.*2650dup	ENSP00000421420.1:n.*2650dup
ENST00000512049.5:c.2849dup	ENSP00000421860.1:p.Ser951GlufsTer21
ENST00000513604.5:c.*2258dup	ENSP00000423111.1:n.*2258dup
ENST00000515425.5:c.2870dup	ENSP00000423660.1:p.Ser958GlufsTer21
NM_024577.3:c.2870dup , LRG_269t1:c.2870dup	NP_078853.2:p.Ser958GlufsTer21
NM_024577.4:c.2870dup MANE Select	NP_078853.2:p.Ser958GlufsTer21