Canonical Allele Identifier: CA3499020

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027390C>A , CM000667.2:g.149027390C>A	GRCh38
NC_000005.9:g.148406953C>A , CM000667.1:g.148406953C>A	GRCh37
NC_000005.8:g.148387146C>A	NCBI36
NG_007947.2:g.40785G>T , LRG_269:g.40785G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024577.4:c.2342G>T MANE Select	NP_078853.2:p.Ser781Ile
ENST00000515425.6:c.2342G>T MANE Select	ENSP00000423660.1:p.Ser781Ile
NM_024577.3:c.2342G>T , LRG_269t1:c.2342G>T	NP_078853.2:p.Ser781Ile
ENST00000323829.9:c.*1730G>T	ENSP00000313025.5:n.*1730G>T
ENST00000502274.2:c.2238G>T
ENST00000504517.5:c.1872G>T	ENSP00000421779.1:n.1872G>T
ENST00000504690.5:c.2342G>T	ENSP00000425627.1:p.Ser781Ile
ENST00000510779.1:c.1392G>T
ENST00000511307.5:c.*2122G>T	ENSP00000421420.1:n.*2122G>T
ENST00000512049.5:c.2321G>T	ENSP00000421860.1:p.Ser774Ile
ENST00000513604.5:c.*1730G>T	ENSP00000423111.1:n.*1730G>T
ENST00000515425.5:c.2342G>T	ENSP00000423660.1:p.Ser781Ile
ENST00000675793.1:c.*1626G>T	ENSP00000502039.1:n.*1626G>T
ENST00000676056.1:c.*1852G>T	ENSP00000501827.1:n.*1852G>T