Canonical Allele Identifier: CA1590312674
Gene: SH3TC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149027935C= , CM000667.2:g.149027935C= GRCh38
NC_000005.9:g.148407498C= , CM000667.1:g.148407498C= GRCh37
NC_000005.8:g.148387691C= NCBI36
NG_007947.2:g.40240G= , LRG_269:g.40240G=

Transcript Alleles

HGVS Amino-acid change
ENST00000502274.2:c.1693G=
ENST00000515425.6:c.1797G= MANE Select ENSP00000423660.1:p.Leu599=
ENST00000675793.1:c.*1081G= ENSP00000502039.1:n.*1081G=
ENST00000676056.1:c.*1307G= ENSP00000501827.1:n.*1307G=
ENST00000323829.9:c.*1185G= ENSP00000313025.5:n.*1185G=
ENST00000504517.5:c.1327G= ENSP00000421779.1:n.1327G=
ENST00000504690.5:c.1797G= ENSP00000425627.1:p.Leu599=
ENST00000510779.1:c.847G=
ENST00000511307.5:c.*1577G= ENSP00000421420.1:n.*1577G=
ENST00000512049.5:c.1776G= ENSP00000421860.1:p.Leu592=
ENST00000513604.5:c.*1185G= ENSP00000423111.1:n.*1185G=
ENST00000515425.5:c.1797G= ENSP00000423660.1:p.Leu599=
NM_024577.3:c.1797G= , LRG_269t1:c.1797G= NP_078853.2:p.Leu599=
NM_024577.4:c.1797G= MANE Select NP_078853.2:p.Leu599=