Canonical Allele Identifier: CA3498872
Gene: SH3TC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 476903
dbSNP Id: rs541197556

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149026591G>A , CM000667.2:g.149026591G>A GRCh38
NC_000005.9:g.148406154G>A , CM000667.1:g.148406154G>A GRCh37
NC_000005.8:g.148386347G>A NCBI36
NG_007947.2:g.41584C>T , LRG_269:g.41584C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000502274.2:c.2930C>T
ENST00000515425.6:c.3034C>T MANE Select ENSP00000423660.1:p.Arg1012Trp
ENST00000675793.1:c.*2318C>T ENSP00000502039.1:n.*2318C>T
ENST00000676056.1:c.*2544C>T ENSP00000501827.1:n.*2544C>T
ENST00000323829.9:c.*2422C>T ENSP00000313025.5:n.*2422C>T
ENST00000504517.5:c.2564C>T ENSP00000421779.1:n.2564C>T
ENST00000504690.5:c.3034C>T ENSP00000425627.1:p.Arg1012Trp
ENST00000510779.1:c.2084C>T
ENST00000511307.5:c.*2921C>T ENSP00000421420.1:n.*2921C>T
ENST00000512049.5:c.3013C>T ENSP00000421860.1:p.Arg1005Trp
ENST00000513604.5:c.*2529C>T ENSP00000423111.1:n.*2529C>T
ENST00000515425.5:c.3034C>T ENSP00000423660.1:p.Arg1012Trp
NM_024577.3:c.3034C>T , LRG_269t1:c.3034C>T NP_078853.2:p.Arg1012Trp
NM_024577.4:c.3034C>T MANE Select NP_078853.2:p.Arg1012Trp