Canonical Allele Identifier: CA2843640764

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027834dup , CM000667.2:g.149027834dup	GRCh38
NC_000005.9:g.148407397dup , CM000667.1:g.148407397dup	GRCh37
NC_000005.8:g.148387590dup	NCBI36
NG_007947.2:g.40342dup , LRG_269:g.40342dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1795dup
ENST00000515425.6:c.1899dup MANE Select	ENSP00000423660.1:p.Arg634GlnfsTer?
ENST00000675793.1:c.*1183dup	ENSP00000502039.1:n.*1183dup
ENST00000676056.1:c.*1409dup	ENSP00000501827.1:n.*1409dup
ENST00000323829.9:c.*1287dup	ENSP00000313025.5:n.*1287dup
ENST00000504517.5:c.1429dup	ENSP00000421779.1:n.1429dup
ENST00000504690.5:c.1899dup	ENSP00000425627.1:p.Arg634GlnfsTer?
ENST00000510779.1:c.949dup
ENST00000511307.5:c.*1679dup	ENSP00000421420.1:n.*1679dup
ENST00000512049.5:c.1878dup	ENSP00000421860.1:p.Arg627GlnfsTer?
ENST00000513604.5:c.*1287dup	ENSP00000423111.1:n.*1287dup
ENST00000515425.5:c.1899dup	ENSP00000423660.1:p.Arg634GlnfsTer?
NM_024577.3:c.1899dup , LRG_269t1:c.1899dup	NP_078853.2:p.Arg634GlnfsTer?
NM_024577.4:c.1899dup MANE Select	NP_078853.2:p.Arg634GlnfsTer?