Canonical Allele Identifier: CA1590304265
Gene: SH3TC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149008985A= , CM000667.2:g.149008985A= GRCh38
NC_000005.9:g.148388548A= , CM000667.1:g.148388548A= GRCh37
NC_000005.8:g.148368741A= NCBI36
NG_007947.2:g.59190T= , LRG_269:g.59190T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000502274.2:c.3240T=
ENST00000515425.6:c.3344T= MANE Select ENSP00000423660.1:p.Leu1115=
ENST00000675793.1:c.*2628T= ENSP00000502039.1:n.*2628T=
ENST00000323829.9:c.*2732T= ENSP00000313025.5:n.*2732T=
ENST00000504517.5:c.2874T= ENSP00000421779.1:n.2874T=
ENST00000504690.5:c.3344T= ENSP00000425627.1:p.Leu1115=
ENST00000510779.1:c.2394T=
ENST00000512049.5:c.3323T= ENSP00000421860.1:p.Leu1108=
ENST00000515229.5:n.6T=
ENST00000515425.5:c.3344T= ENSP00000423660.1:p.Leu1115=
NM_024577.3:c.3344T= , LRG_269t1:c.3344T= NP_078853.2:p.Leu1115=
NM_024577.4:c.3344T= MANE Select NP_078853.2:p.Leu1115=