Canonical Allele Identifier: CA336470
Gene: SH3TC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149028145_149028146delinsCT , CM000667.2:g.149028145_149028146delinsCT GRCh38
NC_000005.9:g.148407708_148407709delinsCT , CM000667.1:g.148407708_148407709delinsCT GRCh37
NC_000005.8:g.148387901_148387902delinsCT NCBI36
NG_007947.2:g.40029_40030delinsAG , LRG_269:g.40029_40030delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000502274.2:c.1482_1483delinsAG
ENST00000515425.6:c.1586_1587delinsAG MANE Select ENSP00000423660.1:p.Arg529Gln
ENST00000675793.1:c.*870_*871delinsAG ENSP00000502039.1:n.*870_*871delinsAG
ENST00000676056.1:c.*1096_*1097delinsAG ENSP00000501827.1:n.*1096_*1097delinsAG
ENST00000323829.9:c.*974_*975delinsAG ENSP00000313025.5:n.*974_*975delinsAG
ENST00000504517.5:c.1116_1117delinsAG ENSP00000421779.1:n.1116_1117delinsAG
ENST00000504690.5:c.1586_1587delinsAG ENSP00000425627.1:p.Arg529Gln
ENST00000510779.1:c.636_637delinsAG
ENST00000511307.5:c.*1366_*1367delinsAG ENSP00000421420.1:n.*1366_*1367delinsAG
ENST00000512049.5:c.1565_1566delinsAG ENSP00000421860.1:p.Arg522Gln
ENST00000513604.5:c.*974_*975delinsAG ENSP00000423111.1:n.*974_*975delinsAG
ENST00000515425.5:c.1586_1587delinsAG ENSP00000423660.1:p.Arg529Gln
NM_024577.3:c.1586_1587delinsAG , LRG_269t1:c.1586_1587delinsAG NP_078853.2:p.Arg529Gln
NM_024577.4:c.1586_1587delinsAG MANE Select NP_078853.2:p.Arg529Gln