Canonical Allele Identifier: CA361670213

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149031593T>A , CM000667.2:g.149031593T>A	GRCh38
NC_000005.9:g.148411156T>A , CM000667.1:g.148411156T>A	GRCh37
NC_000005.8:g.148391349T>A	NCBI36
NG_007947.2:g.36582A>T , LRG_269:g.36582A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024577.4:c.1096A>T MANE Select	NP_078853.2:p.Thr366Ser
ENST00000515425.6:c.1096A>T MANE Select	ENSP00000423660.1:p.Thr366Ser
NM_024577.3:c.1096A>T , LRG_269t1:c.1096A>T	NP_078853.2:p.Thr366Ser
ENST00000323829.9:c.*484A>T	ENSP00000313025.5:n.*484A>T
ENST00000502274.2:c.1116A>T
ENST00000503071.1:n.563A>T
ENST00000504517.5:c.626A>T	ENSP00000421779.1:n.626A>T
ENST00000504690.5:c.1096A>T	ENSP00000425627.1:p.Thr366Ser
ENST00000510779.1:c.24A>T
ENST00000511307.5:c.*876A>T	ENSP00000421420.1:n.*876A>T
ENST00000512049.5:c.1075A>T	ENSP00000421860.1:p.Thr359Ser
ENST00000513340.1:n.470A>T
ENST00000513604.5:c.*484A>T	ENSP00000423111.1:n.*484A>T
ENST00000515425.5:c.1096A>T	ENSP00000423660.1:p.Thr366Ser
ENST00000675793.1:c.*380A>T	ENSP00000502039.1:n.*380A>T
ENST00000676056.1:c.*484A>T	ENSP00000501827.1:n.*484A>T