Canonical Allele Identifier: CA2580073854

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 2435919
• ClinVar RCV Id: RCV003136669

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027805_149027806delinsAA , CM000667.2:g.149027805_149027806delinsAA	GRCh38
NC_000005.9:g.148407368_148407369delinsAA , CM000667.1:g.148407368_148407369delinsAA	GRCh37
NC_000005.8:g.148387561_148387562delinsAA	NCBI36
NG_007947.2:g.40369_40370delinsTT , LRG_269:g.40369_40370delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1822_1823delinsTT
ENST00000515425.6:c.1926_1927delinsTT MANE Select	ENSP00000423660.1:p.Leu642_Leu643delinsPhePhe
ENST00000675793.1:c.*1210_*1211delinsTT	ENSP00000502039.1:n.*1210_*1211delinsTT
ENST00000676056.1:c.*1436_*1437delinsTT	ENSP00000501827.1:n.*1436_*1437delinsTT
ENST00000323829.9:c.*1314_*1315delinsTT	ENSP00000313025.5:n.*1314_*1315delinsTT
ENST00000504517.5:c.1456_1457delinsTT	ENSP00000421779.1:n.1456_1457delinsTT
ENST00000504690.5:c.1926_1927delinsTT	ENSP00000425627.1:p.Leu642_Leu643delinsPhePhe
ENST00000510779.1:c.976_977delinsTT
ENST00000511307.5:c.*1706_*1707delinsTT	ENSP00000421420.1:n.*1706_*1707delinsTT
ENST00000512049.5:c.1905_1906delinsTT	ENSP00000421860.1:p.Leu635_Leu636delinsPhePhe
ENST00000513604.5:c.*1314_*1315delinsTT	ENSP00000423111.1:n.*1314_*1315delinsTT
ENST00000515425.5:c.1926_1927delinsTT	ENSP00000423660.1:p.Leu642_Leu643delinsPhePhe
NM_024577.3:c.1926_1927delinsTT , LRG_269t1:c.1926_1927delinsTT	NP_078853.2:p.Leu642_Leu643delinsPhePhe
NM_024577.4:c.1926_1927delinsTT MANE Select	NP_078853.2:p.Leu642_Leu643delinsPhePhe