Canonical Allele Identifier: CA2578445740
Gene: SH3TC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149026524del , CM000667.2:g.149026524del GRCh38
NC_000005.9:g.148406087del , CM000667.1:g.148406087del GRCh37
NC_000005.8:g.148386280del NCBI36
NG_007947.2:g.41652del , LRG_269:g.41652del

Transcript Alleles

HGVS Amino-acid Change
ENST00000502274.2:c.2949+49del
ENST00000515425.6:c.3053+49del MANE Select ENSP00000423660.1:n.3053+49del
ENST00000675793.1:c.*2337+49del ENSP00000502039.1:n.*2337+49del
ENST00000676056.1:c.*2563+49del ENSP00000501827.1:n.*2563+49del
ENST00000323829.9:c.*2441+49del ENSP00000313025.5:n.*2441+49del
ENST00000504517.5:c.2583+49del ENSP00000421779.1:n.2583+49del
ENST00000504690.5:c.3053+49del ENSP00000425627.1:n.3053+49del
ENST00000510779.1:c.2103+49del
ENST00000512049.5:c.3032+49del ENSP00000421860.1:n.3032+49del
ENST00000513604.5:c.*2597del ENSP00000423111.1:n.*2597del
ENST00000515425.5:c.3053+49del ENSP00000423660.1:n.3053+49del
NM_024577.3:c.3053+49del , LRG_269t1:c.3053+49del NP_078853.2:n.3053+49del
NM_024577.4:c.3053+49del MANE Select NP_078853.2:n.3053+49del