Canonical Allele Identifier: CA915942730

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 637870
• ClinVar RCV Id: RCV000790218
• dbSNP Id: rs1580900732

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027818del , CM000667.2:g.149027818del	GRCh38
NC_000005.9:g.148407381del , CM000667.1:g.148407381del	GRCh37
NC_000005.8:g.148387574del	NCBI36
NG_007947.2:g.40358del , LRG_269:g.40358del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1811del
ENST00000515425.6:c.1915del MANE Select	ENSP00000423660.1:p.Ala639ProfsTer6
ENST00000675793.1:c.*1199del	ENSP00000502039.1:n.*1199del
ENST00000676056.1:c.*1425del	ENSP00000501827.1:n.*1425del
ENST00000323829.9:c.*1303del	ENSP00000313025.5:n.*1303del
ENST00000504517.5:c.1445del	ENSP00000421779.1:n.1445del
ENST00000504690.5:c.1915del	ENSP00000425627.1:p.Ala639ProfsTer6
ENST00000510779.1:c.965del
ENST00000511307.5:c.*1695del	ENSP00000421420.1:n.*1695del
ENST00000512049.5:c.1894del	ENSP00000421860.1:p.Ala632ProfsTer6
ENST00000513604.5:c.*1303del	ENSP00000423111.1:n.*1303del
ENST00000515425.5:c.1915del	ENSP00000423660.1:p.Ala639ProfsTer6
NM_024577.3:c.1915del , LRG_269t1:c.1915del	NP_078853.2:p.Ala639ProfsTer6
NM_024577.4:c.1915del MANE Select	NP_078853.2:p.Ala639ProfsTer6