Canonical Allele Identifier: CA1590312257
Community Standard Title: NM_024577.4(SH3TC2):c.2710C= (p.Arg904=)
Gene: SH3TC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149027022G= , CM000667.2:g.149027022G= GRCh38
NC_000005.9:g.148406585G= , CM000667.1:g.148406585G= GRCh37
NC_000005.8:g.148386778G= NCBI36
NG_007947.2:g.41153C= , LRG_269:g.41153C=

Transcript Alleles

HGVS Amino-acid Change
NM_024577.4:c.2710C= MANE Select NP_078853.2:p.Arg904=
ENST00000515425.6:c.2710C= MANE Select ENSP00000423660.1:p.Arg904=
NM_024577.3:c.2710C= , LRG_269t1:c.2710C= NP_078853.2:p.Arg904=
ENST00000323829.9:c.*2098C= ENSP00000313025.5:n.*2098C=
ENST00000502274.2:c.2606C=
ENST00000504517.5:c.2240C= ENSP00000421779.1:n.2240C=
ENST00000504690.5:c.2710C= ENSP00000425627.1:p.Arg904=
ENST00000510779.1:c.1760C=
ENST00000511307.5:c.*2490C= ENSP00000421420.1:n.*2490C=
ENST00000512049.5:c.2689C= ENSP00000421860.1:p.Arg897=
ENST00000513604.5:c.*2098C= ENSP00000423111.1:n.*2098C=
ENST00000515425.5:c.2710C= ENSP00000423660.1:p.Arg904=
ENST00000675793.1:c.*1994C= ENSP00000502039.1:n.*1994C=
ENST00000676056.1:c.*2220C= ENSP00000501827.1:n.*2220C=