Canonical Allele Identifier: CA1590312757
Community Standard Title: NM_024577.4(SH3TC2):c.1585C= (p.Arg529=)
Gene: SH3TC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149028147G= , CM000667.2:g.149028147G= GRCh38
NC_000005.9:g.148407710G= , CM000667.1:g.148407710G= GRCh37
NC_000005.8:g.148387903G= NCBI36
NG_007947.2:g.40028C= , LRG_269:g.40028C=

Transcript Alleles

HGVS Amino-acid Change
NM_024577.4:c.1585C= MANE Select NP_078853.2:p.Arg529=
ENST00000515425.6:c.1585C= MANE Select ENSP00000423660.1:p.Arg529=
NM_024577.3:c.1585C= , LRG_269t1:c.1585C= NP_078853.2:p.Arg529=
ENST00000323829.9:c.*973C= ENSP00000313025.5:n.*973C=
ENST00000502274.2:c.1481C=
ENST00000504517.5:c.1115C= ENSP00000421779.1:n.1115C=
ENST00000504690.5:c.1585C= ENSP00000425627.1:p.Arg529=
ENST00000510779.1:c.635C=
ENST00000511307.5:c.*1365C= ENSP00000421420.1:n.*1365C=
ENST00000512049.5:c.1564C= ENSP00000421860.1:p.Arg522=
ENST00000513604.5:c.*973C= ENSP00000423111.1:n.*973C=
ENST00000515425.5:c.1585C= ENSP00000423660.1:p.Arg529=
ENST00000675793.1:c.*869C= ENSP00000502039.1:n.*869C=
ENST00000676056.1:c.*1095C= ENSP00000501827.1:n.*1095C=