Canonical Allele Identifier: CA1590312675

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027937G= , CM000667.2:g.149027937G=	GRCh38
NC_000005.9:g.148407500G= , CM000667.1:g.148407500G=	GRCh37
NC_000005.8:g.148387693G=	NCBI36
NG_007947.2:g.40238C= , LRG_269:g.40238C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000502274.2:c.1691C=
ENST00000515425.6:c.1795C= MANE Select	ENSP00000423660.1:p.Leu599=
ENST00000675793.1:c.*1079C=	ENSP00000502039.1:n.*1079C=
ENST00000676056.1:c.*1305C=	ENSP00000501827.1:n.*1305C=
ENST00000323829.9:c.*1183C=	ENSP00000313025.5:n.*1183C=
ENST00000504517.5:c.1325C=	ENSP00000421779.1:n.1325C=
ENST00000504690.5:c.1795C=	ENSP00000425627.1:p.Leu599=
ENST00000510779.1:c.845C=
ENST00000511307.5:c.*1575C=	ENSP00000421420.1:n.*1575C=
ENST00000512049.5:c.1774C=	ENSP00000421860.1:p.Leu592=
ENST00000513604.5:c.*1183C=	ENSP00000423111.1:n.*1183C=
ENST00000515425.5:c.1795C=	ENSP00000423660.1:p.Leu599=
NM_024577.3:c.1795C= , LRG_269t1:c.1795C=	NP_078853.2:p.Leu599=
NM_024577.4:c.1795C= MANE Select	NP_078853.2:p.Leu599=