Canonical Allele Identifier: CA361664021
Gene: SH3TC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149006950A>T , CM000667.2:g.149006950A>T GRCh38
NC_000005.9:g.148386513A>T , CM000667.1:g.148386513A>T GRCh37
NC_000005.8:g.148366706A>T NCBI36
NG_007947.2:g.61225T>A , LRG_269:g.61225T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000502274.2:c.4459T>A
ENST00000515425.6:c.3606T>A MANE Select ENSP00000423660.1:p.Ser1202Arg
ENST00000675793.1:c.*4663T>A ENSP00000502039.1:n.*4663T>A
ENST00000323829.9:c.*2994T>A ENSP00000313025.5:n.*2994T>A
ENST00000502274.1:c.192T>A ENSP00000421092.1:p.Ser64Arg
ENST00000504517.5:c.3128T>A ENSP00000421779.1:n.3128T>A
ENST00000504690.5:c.3606T>A ENSP00000425627.1:p.Ser1202Arg
ENST00000510350.1:n.162T>A
ENST00000510779.1:c.2656T>A
ENST00000512049.5:c.3585T>A ENSP00000421860.1:p.Ser1195Arg
ENST00000515229.5:n.268T>A
ENST00000515425.5:c.3606T>A ENSP00000423660.1:p.Ser1202Arg
NM_024577.3:c.3606T>A , LRG_269t1:c.3606T>A NP_078853.2:p.Ser1202Arg
NM_024577.4:c.3606T>A MANE Select NP_078853.2:p.Ser1202Arg