Canonical Allele Identifier: CA1590312613
Gene: SH3TC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149027795A= , CM000667.2:g.149027795A= GRCh38
NC_000005.9:g.148407358A= , CM000667.1:g.148407358A= GRCh37
NC_000005.8:g.148387551A= NCBI36
NG_007947.2:g.40380T= , LRG_269:g.40380T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000502274.2:c.1833T=
ENST00000515425.6:c.1937T= MANE Select ENSP00000423660.1:p.Leu646=
ENST00000675793.1:c.*1221T= ENSP00000502039.1:n.*1221T=
ENST00000676056.1:c.*1447T= ENSP00000501827.1:n.*1447T=
ENST00000323829.9:c.*1325T= ENSP00000313025.5:n.*1325T=
ENST00000504517.5:c.1467T= ENSP00000421779.1:n.1467T=
ENST00000504690.5:c.1937T= ENSP00000425627.1:p.Leu646=
ENST00000510779.1:c.987T=
ENST00000511307.5:c.*1717T= ENSP00000421420.1:n.*1717T=
ENST00000512049.5:c.1916T= ENSP00000421860.1:p.Leu639=
ENST00000513604.5:c.*1325T= ENSP00000423111.1:n.*1325T=
ENST00000515425.5:c.1937T= ENSP00000423660.1:p.Leu646=
NM_024577.3:c.1937T= , LRG_269t1:c.1937T= NP_078853.2:p.Leu646=
NM_024577.4:c.1937T= MANE Select NP_078853.2:p.Leu646=