Canonical Allele Identifier: CA1590304244

Gene: SH3TC2

Linked Data

• dbSNP Id: rs1753736714

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149008931_149008932del , CM000667.2:g.149008931_149008932del	GRCh38
NC_000005.9:g.148388494_148388495del , CM000667.1:g.148388494_148388495del	GRCh37
NC_000005.8:g.148368687_148368688del	NCBI36
NG_007947.2:g.59244_59245del , LRG_269:g.59244_59245del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.3294_3295del
ENST00000515425.6:c.3398_3399del MANE Select	ENSP00000423660.1:p.Thr1133ArgfsTer5
ENST00000675793.1:c.*2682_*2683del	ENSP00000502039.1:n.*2682_*2683del
ENST00000323829.9:c.*2786_*2787del	ENSP00000313025.5:n.*2786_*2787del
ENST00000504517.5:c.2928_2929del	ENSP00000421779.1:n.2928_2929del
ENST00000504690.5:c.3398_3399del	ENSP00000425627.1:p.Thr1133ArgfsTer5
ENST00000510779.1:c.2448_2449del
ENST00000512049.5:c.3377_3378del	ENSP00000421860.1:p.Thr1126ArgfsTer5
ENST00000515229.5:n.60_61del
ENST00000515425.5:c.3398_3399del	ENSP00000423660.1:p.Thr1133ArgfsTer5
NM_024577.3:c.3398_3399del , LRG_269t1:c.3398_3399del	NP_078853.2:p.Thr1133ArgfsTer5
NM_024577.4:c.3398_3399del MANE Select	NP_078853.2:p.Thr1133ArgfsTer5