Canonical Allele Identifier: CA1590312851
Community Standard Title: NM_024577.4(SH3TC2):c.1384G= (p.Glu462=)
Gene: SH3TC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149028348C= , CM000667.2:g.149028348C= GRCh38
NC_000005.9:g.148407911C= , CM000667.1:g.148407911C= GRCh37
NC_000005.8:g.148388104C= NCBI36
NG_007947.2:g.39827G= , LRG_269:g.39827G=

Transcript Alleles

HGVS Amino-acid Change
NM_024577.4:c.1384G= MANE Select NP_078853.2:p.Glu462=
ENST00000515425.6:c.1384G= MANE Select ENSP00000423660.1:p.Glu462=
NM_024577.3:c.1384G= , LRG_269t1:c.1384G= NP_078853.2:p.Glu462=
ENST00000323829.9:c.*772G= ENSP00000313025.5:n.*772G=
ENST00000502274.2:c.1395+9G=
ENST00000504517.5:c.914G= ENSP00000421779.1:n.914G=
ENST00000504690.5:c.1384G= ENSP00000425627.1:p.Glu462=
ENST00000510779.1:c.434G=
ENST00000511307.5:c.*1164G= ENSP00000421420.1:n.*1164G=
ENST00000512049.5:c.1363G= ENSP00000421860.1:p.Glu455=
ENST00000513604.5:c.*772G= ENSP00000423111.1:n.*772G=
ENST00000515425.5:c.1384G= ENSP00000423660.1:p.Glu462=
ENST00000675793.1:c.*668G= ENSP00000502039.1:n.*668G=
ENST00000676056.1:c.*894G= ENSP00000501827.1:n.*894G=