Canonical Allele Identifier: CA2739272733

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 2826100
• ClinVar RCV Id: RCV003744249

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027734_149027735del , CM000667.2:g.149027734_149027735del	GRCh38
NC_000005.9:g.148407297_148407298del , CM000667.1:g.148407297_148407298del	GRCh37
NC_000005.8:g.148387490_148387491del	NCBI36
NG_007947.2:g.40441_40442del , LRG_269:g.40441_40442del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1894_1895del
ENST00000515425.6:c.1998_1999del MANE Select	ENSP00000423660.1:p.Pro667CysfsTer3
ENST00000675793.1:c.*1282_*1283del	ENSP00000502039.1:n.*1282_*1283del
ENST00000676056.1:c.*1508_*1509del	ENSP00000501827.1:n.*1508_*1509del
ENST00000323829.9:c.*1386_*1387del	ENSP00000313025.5:n.*1386_*1387del
ENST00000504517.5:c.1528_1529del	ENSP00000421779.1:n.1528_1529del
ENST00000504690.5:c.1998_1999del	ENSP00000425627.1:p.Pro667CysfsTer3
ENST00000510779.1:c.1048_1049del
ENST00000511307.5:c.*1778_*1779del	ENSP00000421420.1:n.*1778_*1779del
ENST00000512049.5:c.1977_1978del	ENSP00000421860.1:p.Pro660CysfsTer3
ENST00000513604.5:c.*1386_*1387del	ENSP00000423111.1:n.*1386_*1387del
ENST00000515425.5:c.1998_1999del	ENSP00000423660.1:p.Pro667CysfsTer3
NM_024577.3:c.1998_1999del , LRG_269t1:c.1998_1999del	NP_078853.2:p.Pro667CysfsTer3
NM_024577.4:c.1998_1999del MANE Select	NP_078853.2:p.Pro667CysfsTer3