Canonical Allele Identifier: CA1590304332
Gene: SH3TC2 HGNC NCBI

Linked Data

dbSNP Id: rs1753741307

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149009123_149009124insGGTGGAGCGC , CM000667.2:g.149009123_149009124insGGTGGAGCGC GRCh38
NC_000005.9:g.148388686_148388687insGGTGGAGCGC , CM000667.1:g.148388686_148388687insGGTGGAGCGC GRCh37
NC_000005.8:g.148368879_148368880insGGTGGAGCGC NCBI36
NG_007947.2:g.59051_59052insGCGCTCCACC , LRG_269:g.59051_59052insGCGCTCCACC

Transcript Alleles

HGVS Amino-acid Change
ENST00000502274.2:c.3224-123_3224-122insGCGCTCCACC
ENST00000515425.6:c.3328-123_3328-122insGCGCTCCACC MANE Select ENSP00000423660.1:n.3328-123_3328-122insGCGCTCCACC
ENST00000675793.1:c.*2612-123_*2612-122insGCGCTCCACC ENSP00000502039.1:n.*2612-123_*2612-122insGCGCTCCACC
ENST00000323829.9:c.*2716-123_*2716-122insGCGCTCCACC ENSP00000313025.5:n.*2716-123_*2716-122insGCGCTCCACC
ENST00000504517.5:c.2858-123_2858-122insGCGCTCCACC ENSP00000421779.1:n.2858-123_2858-122insGCGCTCCACC
ENST00000504690.5:c.3328-123_3328-122insGCGCTCCACC ENSP00000425627.1:n.3328-123_3328-122insGCGCTCCACC
ENST00000510779.1:c.2378-123_2378-122insGCGCTCCACC
ENST00000512049.5:c.3307-123_3307-122insGCGCTCCACC ENSP00000421860.1:n.3307-123_3307-122insGCGCTCCACC
ENST00000515425.5:c.3328-123_3328-122insGCGCTCCACC ENSP00000423660.1:n.3328-123_3328-122insGCGCTCCACC
NM_024577.3:c.3328-123_3328-122insGCGCTCCACC , LRG_269t1:c.3328-123_3328-122insGCGCTCCACC NP_078853.2:n.3328-123_3328-122insGCGCTCCACC
NM_024577.4:c.3328-123_3328-122insGCGCTCCACC MANE Select NP_078853.2:n.3328-123_3328-122insGCGCTCCACC