Canonical Allele Identifier: CA447399486
Gene: SH3TC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 798762
ClinVar RCV Id: RCV001406542
dbSNP Id: rs1380437828

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149027740T>C , CM000667.2:g.149027740T>C GRCh38
NC_000005.9:g.148407303T>C , CM000667.1:g.148407303T>C GRCh37
NC_000005.8:g.148387496T>C NCBI36
NG_007947.2:g.40435A>G , LRG_269:g.40435A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000502274.2:c.1888A>G
ENST00000515425.6:c.1992A>G MANE Select ENSP00000423660.1:p.Gly664=
ENST00000675793.1:c.*1276A>G ENSP00000502039.1:n.*1276A>G
ENST00000676056.1:c.*1502A>G ENSP00000501827.1:n.*1502A>G
ENST00000323829.9:c.*1380A>G ENSP00000313025.5:n.*1380A>G
ENST00000504517.5:c.1522A>G ENSP00000421779.1:n.1522A>G
ENST00000504690.5:c.1992A>G ENSP00000425627.1:p.Gly664=
ENST00000510779.1:c.1042A>G
ENST00000511307.5:c.*1772A>G ENSP00000421420.1:n.*1772A>G
ENST00000512049.5:c.1971A>G ENSP00000421860.1:p.Gly657=
ENST00000513604.5:c.*1380A>G ENSP00000423111.1:n.*1380A>G
ENST00000515425.5:c.1992A>G ENSP00000423660.1:p.Gly664=
NM_024577.3:c.1992A>G , LRG_269t1:c.1992A>G NP_078853.2:p.Gly664=
NM_024577.4:c.1992A>G MANE Select NP_078853.2:p.Gly664=