Canonical Allele Identifier: CA447399487
Gene: SH3TC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.148407303T>G (hg19)

Genomic Alleles

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

Transcript Alleles

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