Canonical Allele Identifier: CA361673842

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149040611A>C , CM000667.2:g.149040611A>C	GRCh38
NC_000005.9:g.148420174A>C , CM000667.1:g.148420174A>C	GRCh37
NC_000005.8:g.148400367A>C	NCBI36
NG_007947.2:g.27564T>G , LRG_269:g.27564T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024577.4:c.798T>G MANE Select	NP_078853.2:p.Tyr266Ter
ENST00000515425.6:c.798T>G MANE Select	ENSP00000423660.1:p.Tyr266Ter
NM_024577.3:c.798T>G , LRG_269t1:c.798T>G	NP_078853.2:p.Tyr266Ter
ENST00000323829.9:c.*56T>G	ENSP00000313025.5:n.*56T>G
ENST00000502274.2:c.688T>G
ENST00000503071.1:n.265T>G
ENST00000504517.5:c.198T>G	ENSP00000421779.1:p.Tyr66Ter
ENST00000504690.5:c.798T>G	ENSP00000425627.1:p.Tyr266Ter
ENST00000511307.5:c.*578T>G	ENSP00000421420.1:n.*578T>G
ENST00000512049.5:c.777T>G	ENSP00000421860.1:p.Tyr259Ter
ENST00000513604.5:c.*56T>G	ENSP00000423111.1:n.*56T>G
ENST00000515425.5:c.798T>G	ENSP00000423660.1:p.Tyr266Ter
ENST00000674655.1:c.60T>G	ENSP00000502840.1:p.Tyr20Ter
ENST00000674983.1:c.*56T>G	ENSP00000502387.1:n.*56T>G
ENST00000675793.1:c.798T>G	ENSP00000502039.1:p.Tyr266Ter
ENST00000676056.1:c.*56T>G	ENSP00000501827.1:n.*56T>G
ENST00000676367.1:n.356T>G