Canonical Allele Identifier: CA2578445809

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027782_149027784dup , CM000667.2:g.149027782_149027784dup	GRCh38
NC_000005.9:g.148407345_148407347dup , CM000667.1:g.148407345_148407347dup	GRCh37
NC_000005.8:g.148387538_148387540dup	NCBI36
NG_007947.2:g.40395_40397dup , LRG_269:g.40395_40397dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1848_1850dup
ENST00000515425.6:c.1952_1954dup MANE Select	ENSP00000423660.1:p.Glu651_Val652insGlu
ENST00000675793.1:c.*1236_*1238dup	ENSP00000502039.1:n.*1236_*1238dup
ENST00000676056.1:c.*1462_*1464dup	ENSP00000501827.1:n.*1462_*1464dup
ENST00000323829.9:c.*1340_*1342dup	ENSP00000313025.5:n.*1340_*1342dup
ENST00000504517.5:c.1482_1484dup	ENSP00000421779.1:n.1482_1484dup
ENST00000504690.5:c.1952_1954dup	ENSP00000425627.1:p.Glu651_Val652insGlu
ENST00000510779.1:c.1002_1004dup
ENST00000511307.5:c.*1732_*1734dup	ENSP00000421420.1:n.*1732_*1734dup
ENST00000512049.5:c.1931_1933dup	ENSP00000421860.1:p.Glu644_Val645insGlu
ENST00000513604.5:c.*1340_*1342dup	ENSP00000423111.1:n.*1340_*1342dup
ENST00000515425.5:c.1952_1954dup	ENSP00000423660.1:p.Glu651_Val652insGlu
NM_024577.3:c.1952_1954dup , LRG_269t1:c.1952_1954dup	NP_078853.2:p.Glu651_Val652insGlu
NM_024577.4:c.1952_1954dup MANE Select	NP_078853.2:p.Glu651_Val652insGlu