Canonical Allele Identifier: CA1590312700
Gene: SH3TC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149028007C= , CM000667.2:g.149028007C= GRCh38
NC_000005.9:g.148407570C= , CM000667.1:g.148407570C= GRCh37
NC_000005.8:g.148387763C= NCBI36
NG_007947.2:g.40168G= , LRG_269:g.40168G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000502274.2:c.1621G=
ENST00000515425.6:c.1725G= MANE Select ENSP00000423660.1:p.Leu575=
ENST00000675793.1:c.*1009G= ENSP00000502039.1:n.*1009G=
ENST00000676056.1:c.*1235G= ENSP00000501827.1:n.*1235G=
ENST00000323829.9:c.*1113G= ENSP00000313025.5:n.*1113G=
ENST00000504517.5:c.1255G= ENSP00000421779.1:n.1255G=
ENST00000504690.5:c.1725G= ENSP00000425627.1:p.Leu575=
ENST00000510779.1:c.775G=
ENST00000511307.5:c.*1505G= ENSP00000421420.1:n.*1505G=
ENST00000512049.5:c.1704G= ENSP00000421860.1:p.Leu568=
ENST00000513604.5:c.*1113G= ENSP00000423111.1:n.*1113G=
ENST00000515425.5:c.1725G= ENSP00000423660.1:p.Leu575=
NM_024577.3:c.1725G= , LRG_269t1:c.1725G= NP_078853.2:p.Leu575=
NM_024577.4:c.1725G= MANE Select NP_078853.2:p.Leu575=