Canonical Allele Identifier: CA361674207
Community Standard Title: NM_024577.4(SH3TC2):c.731+2T>G
Gene: SH3TC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149041414A>C , CM000667.2:g.149041414A>C GRCh38
NC_000005.9:g.148420977A>C , CM000667.1:g.148420977A>C GRCh37
NC_000005.8:g.148401170A>C NCBI36
NG_007947.2:g.26761T>G , LRG_269:g.26761T>G

Transcript Alleles

HGVS Amino-acid Change
NM_024577.4:c.731+2T>G MANE Select NP_078853.2:n.731+2T>G
ENST00000515425.6:c.731+2T>G MANE Select ENSP00000423660.1:n.731+2T>G
NM_024577.3:c.731+2T>G , LRG_269t1:c.731+2T>G NP_078853.2:n.731+2T>G
ENST00000323829.9:c.673+60T>G ENSP00000313025.5:n.673+60T>G
ENST00000502274.2:c.621+60T>G
ENST00000503071.1:n.198+60T>G
ENST00000504517.5:c.131+2T>G ENSP00000421779.1:n.131+2T>G
ENST00000504690.5:c.731+2T>G ENSP00000425627.1:n.731+2T>G
ENST00000511307.5:c.*511+2T>G ENSP00000421420.1:n.*511+2T>G
ENST00000512049.5:c.710+2T>G ENSP00000421860.1:n.710+2T>G
ENST00000513604.5:c.673+60T>G ENSP00000423111.1:n.673+60T>G
ENST00000515425.5:c.731+2T>G ENSP00000423660.1:n.731+2T>G
ENST00000674983.1:c.673+60T>G ENSP00000502387.1:n.673+60T>G
ENST00000675793.1:c.731+2T>G ENSP00000502039.1:n.731+2T>G
ENST00000676056.1:c.673+60T>G ENSP00000501827.1:n.673+60T>G
ENST00000676367.1:n.289+60T>G