Canonical Allele Identifier: CA3499163

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149028225C>T , CM000667.2:g.149028225C>T	GRCh38
NC_000005.9:g.148407788C>T , CM000667.1:g.148407788C>T	GRCh37
NC_000005.8:g.148387981C>T	NCBI36
NG_007947.2:g.39950G>A , LRG_269:g.39950G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024577.4:c.1507G>A MANE Select	NP_078853.2:p.Glu503Lys
ENST00000515425.6:c.1507G>A MANE Select	ENSP00000423660.1:p.Glu503Lys
NM_024577.3:c.1507G>A , LRG_269t1:c.1507G>A	NP_078853.2:p.Glu503Lys
ENST00000323829.9:c.*895G>A	ENSP00000313025.5:n.*895G>A
ENST00000502274.2:c.1403G>A
ENST00000504517.5:c.1037G>A	ENSP00000421779.1:n.1037G>A
ENST00000504690.5:c.1507G>A	ENSP00000425627.1:p.Glu503Lys
ENST00000510779.1:c.557G>A
ENST00000511307.5:c.*1287G>A	ENSP00000421420.1:n.*1287G>A
ENST00000512049.5:c.1486G>A	ENSP00000421860.1:p.Glu496Lys
ENST00000513604.5:c.*895G>A	ENSP00000423111.1:n.*895G>A
ENST00000515425.5:c.1507G>A	ENSP00000423660.1:p.Glu503Lys
ENST00000675793.1:c.*791G>A	ENSP00000502039.1:n.*791G>A
ENST00000676056.1:c.*1017G>A	ENSP00000501827.1:n.*1017G>A