Canonical Allele Identifier: CA2768853362

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027738dup , CM000667.2:g.149027738dup	GRCh38
NC_000005.9:g.148407301dup , CM000667.1:g.148407301dup	GRCh37
NC_000005.8:g.148387494dup	NCBI36
NG_007947.2:g.40437dup , LRG_269:g.40437dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1890dup
ENST00000515425.6:c.1994dup MANE Select	ENSP00000423660.1:p.His665GlnfsTer6
ENST00000675793.1:c.*1278dup	ENSP00000502039.1:n.*1278dup
ENST00000676056.1:c.*1504dup	ENSP00000501827.1:n.*1504dup
ENST00000323829.9:c.*1382dup	ENSP00000313025.5:n.*1382dup
ENST00000504517.5:c.1524dup	ENSP00000421779.1:n.1524dup
ENST00000504690.5:c.1994dup	ENSP00000425627.1:p.His665GlnfsTer6
ENST00000510779.1:c.1044dup
ENST00000511307.5:c.*1774dup	ENSP00000421420.1:n.*1774dup
ENST00000512049.5:c.1973dup	ENSP00000421860.1:p.His658GlnfsTer6
ENST00000513604.5:c.*1382dup	ENSP00000423111.1:n.*1382dup
ENST00000515425.5:c.1994dup	ENSP00000423660.1:p.His665GlnfsTer6
NM_024577.3:c.1994dup , LRG_269t1:c.1994dup	NP_078853.2:p.His665GlnfsTer6
NM_024577.4:c.1994dup MANE Select	NP_078853.2:p.His665GlnfsTer6