Canonical Allele Identifier: CA361667337
Gene: SH3TC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 543354
ClinVar RCV Id: RCV000654098
dbSNP Id: rs1554121665

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149027754G>A , CM000667.2:g.149027754G>A GRCh38
NC_000005.9:g.148407317G>A , CM000667.1:g.148407317G>A GRCh37
NC_000005.8:g.148387510G>A NCBI36
NG_007947.2:g.40421C>T , LRG_269:g.40421C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000502274.2:c.1874C>T
ENST00000515425.6:c.1978C>T MANE Select ENSP00000423660.1:p.Gln660Ter
ENST00000675793.1:c.*1262C>T ENSP00000502039.1:n.*1262C>T
ENST00000676056.1:c.*1488C>T ENSP00000501827.1:n.*1488C>T
ENST00000323829.9:c.*1366C>T ENSP00000313025.5:n.*1366C>T
ENST00000504517.5:c.1508C>T ENSP00000421779.1:n.1508C>T
ENST00000504690.5:c.1978C>T ENSP00000425627.1:p.Gln660Ter
ENST00000510779.1:c.1028C>T
ENST00000511307.5:c.*1758C>T ENSP00000421420.1:n.*1758C>T
ENST00000512049.5:c.1957C>T ENSP00000421860.1:p.Gln653Ter
ENST00000513604.5:c.*1366C>T ENSP00000423111.1:n.*1366C>T
ENST00000515425.5:c.1978C>T ENSP00000423660.1:p.Gln660Ter
NM_024577.3:c.1978C>T , LRG_269t1:c.1978C>T NP_078853.2:p.Gln660Ter
NM_024577.4:c.1978C>T MANE Select NP_078853.2:p.Gln660Ter