Canonical Allele Identifier: CA3498676

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149006960C>T , CM000667.2:g.149006960C>T	GRCh38
NC_000005.9:g.148386523C>T , CM000667.1:g.148386523C>T	GRCh37
NC_000005.8:g.148366716C>T	NCBI36
NG_007947.2:g.61215G>A , LRG_269:g.61215G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024577.4:c.3596G>A MANE Select	NP_078853.2:p.Trp1199Ter
ENST00000515425.6:c.3596G>A MANE Select	ENSP00000423660.1:p.Trp1199Ter
NM_024577.3:c.3596G>A , LRG_269t1:c.3596G>A	NP_078853.2:p.Trp1199Ter
ENST00000323829.9:c.*2984G>A	ENSP00000313025.5:n.*2984G>A
ENST00000502274.1:c.182G>A	ENSP00000421092.1:p.Trp61Ter
ENST00000502274.2:c.4449G>A
ENST00000504517.5:c.3118G>A	ENSP00000421779.1:n.3118G>A
ENST00000504690.5:c.3596G>A	ENSP00000425627.1:p.Trp1199Ter
ENST00000510350.1:n.152G>A
ENST00000510779.1:c.2646G>A
ENST00000512049.5:c.3575G>A	ENSP00000421860.1:p.Trp1192Ter
ENST00000515229.5:n.258G>A
ENST00000515425.5:c.3596G>A	ENSP00000423660.1:p.Trp1199Ter
ENST00000675793.1:c.*4653G>A	ENSP00000502039.1:n.*4653G>A