Canonical Allele Identifier: CA2580073844

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 1966232
• ClinVar RCV Id: RCV002716412
• gnomAD v4: 5-149027475-G-GGTCT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027477_149027480dup , CM000667.2:g.149027477_149027480dup	GRCh38
NC_000005.9:g.148407040_148407043dup , CM000667.1:g.148407040_148407043dup	GRCh37
NC_000005.8:g.148387233_148387236dup	NCBI36
NG_007947.2:g.40696_40699dup , LRG_269:g.40696_40699dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2149_2152dup
ENST00000515425.6:c.2253_2256dup MANE Select	ENSP00000423660.1:p.Ser754ProfsTer22
ENST00000675793.1:c.*1537_*1540dup	ENSP00000502039.1:n.*1537_*1540dup
ENST00000676056.1:c.*1763_*1766dup	ENSP00000501827.1:n.*1763_*1766dup
ENST00000323829.9:c.*1641_*1644dup	ENSP00000313025.5:n.*1641_*1644dup
ENST00000504517.5:c.1783_1786dup	ENSP00000421779.1:n.1783_1786dup
ENST00000504690.5:c.2253_2256dup	ENSP00000425627.1:p.Ser754ProfsTer22
ENST00000510779.1:c.1303_1306dup
ENST00000511307.5:c.*2033_*2036dup	ENSP00000421420.1:n.*2033_*2036dup
ENST00000512049.5:c.2232_2235dup	ENSP00000421860.1:p.Ser747ProfsTer22
ENST00000513604.5:c.*1641_*1644dup	ENSP00000423111.1:n.*1641_*1644dup
ENST00000515425.5:c.2253_2256dup	ENSP00000423660.1:p.Ser754ProfsTer22
NM_024577.3:c.2253_2256dup , LRG_269t1:c.2253_2256dup	NP_078853.2:p.Ser754ProfsTer22
NM_024577.4:c.2253_2256dup MANE Select	NP_078853.2:p.Ser754ProfsTer22