Canonical Allele Identifier: CA3499293

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149031592G>C , CM000667.2:g.149031592G>C	GRCh38
NC_000005.9:g.148411155G>C , CM000667.1:g.148411155G>C	GRCh37
NC_000005.8:g.148391348G>C	NCBI36
NG_007947.2:g.36583C>G , LRG_269:g.36583C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024577.4:c.1097C>G MANE Select	NP_078853.2:p.Thr366Ser
ENST00000515425.6:c.1097C>G MANE Select	ENSP00000423660.1:p.Thr366Ser
NM_024577.3:c.1097C>G , LRG_269t1:c.1097C>G	NP_078853.2:p.Thr366Ser
ENST00000323829.9:c.*485C>G	ENSP00000313025.5:n.*485C>G
ENST00000502274.2:c.1117C>G
ENST00000503071.1:n.564C>G
ENST00000504517.5:c.627C>G	ENSP00000421779.1:n.627C>G
ENST00000504690.5:c.1097C>G	ENSP00000425627.1:p.Thr366Ser
ENST00000510779.1:c.25C>G
ENST00000511307.5:c.*877C>G	ENSP00000421420.1:n.*877C>G
ENST00000512049.5:c.1076C>G	ENSP00000421860.1:p.Thr359Ser
ENST00000513340.1:n.471C>G
ENST00000513604.5:c.*485C>G	ENSP00000423111.1:n.*485C>G
ENST00000515425.5:c.1097C>G	ENSP00000423660.1:p.Thr366Ser
ENST00000675793.1:c.*381C>G	ENSP00000502039.1:n.*381C>G
ENST00000676056.1:c.*485C>G	ENSP00000501827.1:n.*485C>G