Canonical Allele Identifier: CA1590304818
Community Standard Title: NM_024577.4(SH3TC2):c.3325C= (p.Arg1109=)
Gene: SH3TC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149010272G= , CM000667.2:g.149010272G= GRCh38
NC_000005.9:g.148389835G= , CM000667.1:g.148389835G= GRCh37
NC_000005.8:g.148370028G= NCBI36
NG_007947.2:g.57903C= , LRG_269:g.57903C=

Transcript Alleles

HGVS Amino-acid Change
NM_024577.4:c.3325C= MANE Select NP_078853.2:p.Arg1109=
ENST00000515425.6:c.3325C= MANE Select ENSP00000423660.1:p.Arg1109=
NM_024577.3:c.3325C= , LRG_269t1:c.3325C= NP_078853.2:p.Arg1109=
ENST00000323829.9:c.*2713C= ENSP00000313025.5:n.*2713C=
ENST00000502274.2:c.3221C=
ENST00000504517.5:c.2855C= ENSP00000421779.1:n.2855C=
ENST00000504690.5:c.3325C= ENSP00000425627.1:p.Arg1109=
ENST00000510779.1:c.2375C=
ENST00000512049.5:c.3304C= ENSP00000421860.1:p.Arg1102=
ENST00000515425.5:c.3325C= ENSP00000423660.1:p.Arg1109=
ENST00000675793.1:c.*2609C= ENSP00000502039.1:n.*2609C=