Canonical Allele Identifier: CA1590312357
Community Standard Title: NM_024577.4(SH3TC2):c.2488G= (p.Glu830=)
Gene: SH3TC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149027244C= , CM000667.2:g.149027244C= GRCh38
NC_000005.9:g.148406807C= , CM000667.1:g.148406807C= GRCh37
NC_000005.8:g.148387000C= NCBI36
NG_007947.2:g.40931G= , LRG_269:g.40931G=

Transcript Alleles

HGVS Amino-acid Change
NM_024577.4:c.2488G= MANE Select NP_078853.2:p.Glu830=
ENST00000515425.6:c.2488G= MANE Select ENSP00000423660.1:p.Glu830=
NM_024577.3:c.2488G= , LRG_269t1:c.2488G= NP_078853.2:p.Glu830=
ENST00000323829.9:c.*1876G= ENSP00000313025.5:n.*1876G=
ENST00000502274.2:c.2384G=
ENST00000504517.5:c.2018G= ENSP00000421779.1:n.2018G=
ENST00000504690.5:c.2488G= ENSP00000425627.1:p.Glu830=
ENST00000510779.1:c.1538G=
ENST00000511307.5:c.*2268G= ENSP00000421420.1:n.*2268G=
ENST00000512049.5:c.2467G= ENSP00000421860.1:p.Glu823=
ENST00000513604.5:c.*1876G= ENSP00000423111.1:n.*1876G=
ENST00000515425.5:c.2488G= ENSP00000423660.1:p.Glu830=
ENST00000675793.1:c.*1772G= ENSP00000502039.1:n.*1772G=
ENST00000676056.1:c.*1998G= ENSP00000501827.1:n.*1998G=