Canonical Allele Identifier: CA3498758
Gene: SH3TC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 234910
dbSNP Id: rs115577291

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149008967G>A , CM000667.2:g.149008967G>A GRCh38
NC_000005.9:g.148388530G>A , CM000667.1:g.148388530G>A GRCh37
NC_000005.8:g.148368723G>A NCBI36
NG_007947.2:g.59208C>T , LRG_269:g.59208C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000502274.2:c.3258C>T
ENST00000515425.6:c.3362C>T MANE Select ENSP00000423660.1:p.Ala1121Val
ENST00000675793.1:c.*2646C>T ENSP00000502039.1:n.*2646C>T
ENST00000323829.9:c.*2750C>T ENSP00000313025.5:n.*2750C>T
ENST00000504517.5:c.2892C>T ENSP00000421779.1:n.2892C>T
ENST00000504690.5:c.3362C>T ENSP00000425627.1:p.Ala1121Val
ENST00000510779.1:c.2412C>T
ENST00000512049.5:c.3341C>T ENSP00000421860.1:p.Ala1114Val
ENST00000515229.5:n.24C>T
ENST00000515425.5:c.3362C>T ENSP00000423660.1:p.Ala1121Val
NM_024577.3:c.3362C>T , LRG_269t1:c.3362C>T NP_078853.2:p.Ala1121Val
NM_024577.4:c.3362C>T MANE Select NP_078853.2:p.Ala1121Val