Canonical Allele Identifier: CA2739865952
Gene: SH3TC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149026821T>C , CM000667.2:g.149026821T>C GRCh38
NC_000005.9:g.148406384T>C , CM000667.1:g.148406384T>C GRCh37
NC_000005.8:g.148386577T>C NCBI36
NG_007947.2:g.41354A>G , LRG_269:g.41354A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000502274.2:c.2768+39A>G
ENST00000515425.6:c.2872+39A>G MANE Select ENSP00000423660.1:n.2872+39A>G
ENST00000675793.1:c.*2156+39A>G ENSP00000502039.1:n.*2156+39A>G
ENST00000676056.1:c.*2382+39A>G ENSP00000501827.1:n.*2382+39A>G
ENST00000323829.9:c.*2260+39A>G ENSP00000313025.5:n.*2260+39A>G
ENST00000504517.5:c.2402+39A>G ENSP00000421779.1:n.2402+39A>G
ENST00000504690.5:c.2872+39A>G ENSP00000425627.1:n.2872+39A>G
ENST00000510779.1:c.1922+39A>G
ENST00000511307.5:c.*2691A>G ENSP00000421420.1:n.*2691A>G
ENST00000512049.5:c.2851+39A>G ENSP00000421860.1:n.2851+39A>G
ENST00000513604.5:c.*2299A>G ENSP00000423111.1:n.*2299A>G
ENST00000515425.5:c.2872+39A>G ENSP00000423660.1:n.2872+39A>G
NM_024577.3:c.2872+39A>G , LRG_269t1:c.2872+39A>G NP_078853.2:n.2872+39A>G
NM_024577.4:c.2872+39A>G MANE Select NP_078853.2:n.2872+39A>G