Canonical Allele Identifier: CA1590304239
Gene: SH3TC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149008912G= , CM000667.2:g.149008912G= GRCh38
NC_000005.9:g.148388475G= , CM000667.1:g.148388475G= GRCh37
NC_000005.8:g.148368668G= NCBI36
NG_007947.2:g.59263C= , LRG_269:g.59263C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000502274.2:c.3313C=
ENST00000515425.6:c.3417C= MANE Select ENSP00000423660.1:p.Leu1139=
ENST00000675793.1:c.*2701C= ENSP00000502039.1:n.*2701C=
ENST00000323829.9:c.*2805C= ENSP00000313025.5:n.*2805C=
ENST00000504517.5:c.2947C= ENSP00000421779.1:n.2947C=
ENST00000504690.5:c.3417C= ENSP00000425627.1:p.Leu1139=
ENST00000510779.1:c.2467C=
ENST00000512049.5:c.3396C= ENSP00000421860.1:p.Leu1132=
ENST00000515229.5:n.79C=
ENST00000515425.5:c.3417C= ENSP00000423660.1:p.Leu1139=
NM_024577.3:c.3417C= , LRG_269t1:c.3417C= NP_078853.2:p.Leu1139=
NM_024577.4:c.3417C= MANE Select NP_078853.2:p.Leu1139=