Canonical Allele Identifier: CA1590303399
Community Standard Title: NM_024577.4(SH3TC2):c.3512G= (p.Arg1171=)
Gene: SH3TC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149007044C= , CM000667.2:g.149007044C= GRCh38
NC_000005.9:g.148386607C= , CM000667.1:g.148386607C= GRCh37
NC_000005.8:g.148366800C= NCBI36
NG_007947.2:g.61131G= , LRG_269:g.61131G=

Transcript Alleles

HGVS Amino-acid Change
NM_024577.4:c.3512G= MANE Select NP_078853.2:p.Arg1171=
ENST00000515425.6:c.3512G= MANE Select ENSP00000423660.1:p.Arg1171=
NM_024577.3:c.3512G= , LRG_269t1:c.3512G= NP_078853.2:p.Arg1171=
ENST00000323829.9:c.*2900G= ENSP00000313025.5:n.*2900G=
ENST00000502274.1:c.98G= ENSP00000421092.1:p.Arg33=
ENST00000502274.2:c.4365G=
ENST00000504517.5:c.3034G= ENSP00000421779.1:n.3034G=
ENST00000504690.5:c.3512G= ENSP00000425627.1:p.Arg1171=
ENST00000510350.1:n.68G=
ENST00000510779.1:c.2562G=
ENST00000512049.5:c.3491G= ENSP00000421860.1:p.Arg1164=
ENST00000515229.5:n.174G=
ENST00000515425.5:c.3512G= ENSP00000423660.1:p.Arg1171=
ENST00000675793.1:c.*4569G= ENSP00000502039.1:n.*4569G=