Canonical Allele Identifier: CA1590312614
Gene: SH3TC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149027803G= , CM000667.2:g.149027803G= GRCh38
NC_000005.9:g.148407366G= , CM000667.1:g.148407366G= GRCh37
NC_000005.8:g.148387559G= NCBI36
NG_007947.2:g.40372C= , LRG_269:g.40372C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000502274.2:c.1825C=
ENST00000515425.6:c.1929C= MANE Select ENSP00000423660.1:p.Leu643=
ENST00000675793.1:c.*1213C= ENSP00000502039.1:n.*1213C=
ENST00000676056.1:c.*1439C= ENSP00000501827.1:n.*1439C=
ENST00000323829.9:c.*1317C= ENSP00000313025.5:n.*1317C=
ENST00000504517.5:c.1459C= ENSP00000421779.1:n.1459C=
ENST00000504690.5:c.1929C= ENSP00000425627.1:p.Leu643=
ENST00000510779.1:c.979C=
ENST00000511307.5:c.*1709C= ENSP00000421420.1:n.*1709C=
ENST00000512049.5:c.1908C= ENSP00000421860.1:p.Leu636=
ENST00000513604.5:c.*1317C= ENSP00000423111.1:n.*1317C=
ENST00000515425.5:c.1929C= ENSP00000423660.1:p.Leu643=
NM_024577.3:c.1929C= , LRG_269t1:c.1929C= NP_078853.2:p.Leu643=
NM_024577.4:c.1929C= MANE Select NP_078853.2:p.Leu643=