Canonical Allele Identifier: CA2580073860

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 2152006
• ClinVar RCV Id: RCV003061554

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149028054del , CM000667.2:g.149028054del	GRCh38
NC_000005.9:g.148407617del , CM000667.1:g.148407617del	GRCh37
NC_000005.8:g.148387810del	NCBI36
NG_007947.2:g.40122del , LRG_269:g.40122del

Transcript Alleles

HGVS	Amino-acid change
ENST00000502274.2:c.1575del
ENST00000515425.6:c.1679del MANE Select	ENSP00000423660.1:p.Gly560GlufsTer21
ENST00000675793.1:c.*963del	ENSP00000502039.1:n.*963del
ENST00000676056.1:c.*1189del	ENSP00000501827.1:n.*1189del
ENST00000323829.9:c.*1067del	ENSP00000313025.5:n.*1067del
ENST00000504517.5:c.1209del	ENSP00000421779.1:n.1209del
ENST00000504690.5:c.1679del	ENSP00000425627.1:p.Gly560GlufsTer21
ENST00000510779.1:c.729del
ENST00000511307.5:c.*1459del	ENSP00000421420.1:n.*1459del
ENST00000512049.5:c.1658del	ENSP00000421860.1:p.Gly553GlufsTer21
ENST00000513604.5:c.*1067del	ENSP00000423111.1:n.*1067del
ENST00000515425.5:c.1679del	ENSP00000423660.1:p.Gly560GlufsTer21
NM_024577.3:c.1679del , LRG_269t1:c.1679del	NP_078853.2:p.Gly560GlufsTer21
NM_024577.4:c.1679del MANE Select	NP_078853.2:p.Gly560GlufsTer21