Canonical Allele Identifier: CA915942728

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 802162
• ClinVar RCV Id: RCV000987611
• dbSNP Id: rs1580900473

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027546del , CM000667.2:g.149027546del	GRCh38
NC_000005.9:g.148407109del , CM000667.1:g.148407109del	GRCh37
NC_000005.8:g.148387302del	NCBI36
NG_007947.2:g.40632del , LRG_269:g.40632del

Transcript Alleles

HGVS	Amino-acid change
ENST00000502274.2:c.2085del
ENST00000515425.6:c.2189del MANE Select	ENSP00000423660.1:p.Gly730ValfsTer21
ENST00000675793.1:c.*1473del	ENSP00000502039.1:n.*1473del
ENST00000676056.1:c.*1699del	ENSP00000501827.1:n.*1699del
ENST00000323829.9:c.*1577del	ENSP00000313025.5:n.*1577del
ENST00000504517.5:c.1719del	ENSP00000421779.1:n.1719del
ENST00000504690.5:c.2189del	ENSP00000425627.1:p.Gly730ValfsTer21
ENST00000510779.1:c.1239del
ENST00000511307.5:c.*1969del	ENSP00000421420.1:n.*1969del
ENST00000512049.5:c.2168del	ENSP00000421860.1:p.Gly723ValfsTer21
ENST00000513604.5:c.*1577del	ENSP00000423111.1:n.*1577del
ENST00000515425.5:c.2189del	ENSP00000423660.1:p.Gly730ValfsTer21
NM_024577.3:c.2189del , LRG_269t1:c.2189del	NP_078853.2:p.Gly730ValfsTer21
NM_024577.4:c.2189del MANE Select	NP_078853.2:p.Gly730ValfsTer21