Canonical Allele Identifier: CA342378

Gene: SH3TC2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027541del , CM000667.2:g.149027541del	GRCh38
NC_000005.9:g.148407104del , CM000667.1:g.148407104del	GRCh37
NC_000005.8:g.148387297del	NCBI36
NG_007947.2:g.40634del , LRG_269:g.40634del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2087del
ENST00000515425.6:c.2191del MANE Select	ENSP00000423660.1:p.Glu731LysfsTer20
ENST00000675793.1:c.*1475del	ENSP00000502039.1:n.*1475del
ENST00000676056.1:c.*1701del	ENSP00000501827.1:n.*1701del
ENST00000323829.9:c.*1579del	ENSP00000313025.5:n.*1579del
ENST00000504517.5:c.1721del	ENSP00000421779.1:n.1721del
ENST00000504690.5:c.2191del	ENSP00000425627.1:p.Glu731LysfsTer20
ENST00000510779.1:c.1241del
ENST00000511307.5:c.*1971del	ENSP00000421420.1:n.*1971del
ENST00000512049.5:c.2170del	ENSP00000421860.1:p.Glu724LysfsTer20
ENST00000513604.5:c.*1579del	ENSP00000423111.1:n.*1579del
ENST00000515425.5:c.2191del	ENSP00000423660.1:p.Glu731LysfsTer20
NM_024577.3:c.2191del , LRG_269t1:c.2191del	NP_078853.2:p.Glu731LysfsTer20
NM_024577.4:c.2191del MANE Select	NP_078853.2:p.Glu731LysfsTer20