Canonical Allele Identifier: CA3498867
Gene: SH3TC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 351901
dbSNP Id: rs186029710

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149026576C>T , CM000667.2:g.149026576C>T GRCh38
NC_000005.9:g.148406139C>T , CM000667.1:g.148406139C>T GRCh37
NC_000005.8:g.148386332C>T NCBI36
NG_007947.2:g.41599G>A , LRG_269:g.41599G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000502274.2:c.2945G>A
ENST00000515425.6:c.3049G>A MANE Select ENSP00000423660.1:p.Ala1017Thr
ENST00000675793.1:c.*2333G>A ENSP00000502039.1:n.*2333G>A
ENST00000676056.1:c.*2559G>A ENSP00000501827.1:n.*2559G>A
ENST00000323829.9:c.*2437G>A ENSP00000313025.5:n.*2437G>A
ENST00000504517.5:c.2579G>A ENSP00000421779.1:n.2579G>A
ENST00000504690.5:c.3049G>A ENSP00000425627.1:p.Ala1017Thr
ENST00000510779.1:c.2099G>A
ENST00000511307.5:c.*2936G>A ENSP00000421420.1:n.*2936G>A
ENST00000512049.5:c.3028G>A ENSP00000421860.1:p.Ala1010Thr
ENST00000513604.5:c.*2544G>A ENSP00000423111.1:n.*2544G>A
ENST00000515425.5:c.3049G>A ENSP00000423660.1:p.Ala1017Thr
NM_024577.3:c.3049G>A , LRG_269t1:c.3049G>A NP_078853.2:p.Ala1017Thr
NM_024577.4:c.3049G>A MANE Select NP_078853.2:p.Ala1017Thr