Canonical Allele Identifier: CA10584081

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 243068
• ClinVar RCV Id: RCV000235051
• dbSNP Id: rs879253859
• MyVariant Identifiers: chr5:g.148418038_148418039insA (hg19) ; chr5:g.149038475_149038476insA (hg38)
• PubMed: PMID:26257172

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149038475_149038476insA , CM000667.2:g.149038475_149038476insA	GRCh38
NC_000005.9:g.148418038_148418039insA , CM000667.1:g.148418038_148418039insA	GRCh37
NC_000005.8:g.148398231_148398232insA	NCBI36
NG_007947.2:g.29699_29700insT , LRG_269:g.29699_29700insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.710_711insT
ENST00000515425.6:c.820_821insT MANE Select	ENSP00000423660.1:p.Lys274IlefsTer7
ENST00000674655.1:c.82_83insT	ENSP00000502840.1:p.Lys28IlefsTer7
ENST00000674983.1:c.*78_*79insT	ENSP00000502387.1:n.*78_*79insT
ENST00000675793.1:c.820_821insT	ENSP00000502039.1:p.Lys274IlefsTer7
ENST00000676056.1:c.*78_*79insT	ENSP00000501827.1:n.*78_*79insT
ENST00000323829.9:c.*78_*79insT	ENSP00000313025.5:n.*78_*79insT
ENST00000503071.1:n.287_288insT
ENST00000504517.5:c.220_221insT	ENSP00000421779.1:p.Lys74IlefsTer7
ENST00000504690.5:c.820_821insT	ENSP00000425627.1:p.Lys274IlefsTer7
ENST00000511307.5:c.*600_*601insT	ENSP00000421420.1:n.*600_*601insT
ENST00000512049.5:c.799_800insT	ENSP00000421860.1:p.Lys267IlefsTer7
ENST00000513604.5:c.*78_*79insT	ENSP00000423111.1:n.*78_*79insT
ENST00000515425.5:c.820_821insT	ENSP00000423660.1:p.Lys274IlefsTer7
NM_024577.3:c.820_821insT , LRG_269t1:c.820_821insT	NP_078853.2:p.Lys274IlefsTer7
NM_024577.4:c.820_821insT MANE Select	NP_078853.2:p.Lys274IlefsTer7