Canonical Allele Identifier: CA2510208553
Gene: SH3TC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149026815_149026816insTCT , CM000667.2:g.149026815_149026816insTCT GRCh38
NC_000005.9:g.148406378_148406379insTCT , CM000667.1:g.148406378_148406379insTCT GRCh37
NC_000005.8:g.148386571_148386572insTCT NCBI36
NG_007947.2:g.41359_41360insAGA , LRG_269:g.41359_41360insAGA

Transcript Alleles

HGVS Amino-acid change
ENST00000502274.2:c.2768+44_2768+45insAGA
ENST00000515425.6:c.2872+44_2872+45insAGA MANE Select ENSP00000423660.1:n.2872+44_2872+45insAGA
ENST00000675793.1:c.*2156+44_*2156+45insAGA ENSP00000502039.1:n.*2156+44_*2156+45insAGA
ENST00000676056.1:c.*2382+44_*2382+45insAGA ENSP00000501827.1:n.*2382+44_*2382+45insAGA
ENST00000323829.9:c.*2260+44_*2260+45insAGA ENSP00000313025.5:n.*2260+44_*2260+45insAGA
ENST00000504517.5:c.2402+44_2402+45insAGA ENSP00000421779.1:n.2402+44_2402+45insAGA
ENST00000504690.5:c.2872+44_2872+45insAGA ENSP00000425627.1:n.2872+44_2872+45insAGA
ENST00000510779.1:c.1922+44_1922+45insAGA
ENST00000511307.5:c.*2696_*2697insAGA ENSP00000421420.1:n.*2696_*2697insAGA
ENST00000512049.5:c.2851+44_2851+45insAGA ENSP00000421860.1:n.2851+44_2851+45insAGA
ENST00000513604.5:c.*2304_*2305insAGA ENSP00000423111.1:n.*2304_*2305insAGA
ENST00000515425.5:c.2872+44_2872+45insAGA ENSP00000423660.1:n.2872+44_2872+45insAGA
NM_024577.3:c.2872+44_2872+45insAGA , LRG_269t1:c.2872+44_2872+45insAGA NP_078853.2:n.2872+44_2872+45insAGA
NM_024577.4:c.2872+44_2872+45insAGA MANE Select NP_078853.2:n.2872+44_2872+45insAGA