Canonical Allele Identifier: CA3498615

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149004743G>A , CM000667.2:g.149004743G>A	GRCh38
NC_000005.9:g.148384306G>A , CM000667.1:g.148384306G>A	GRCh37
NC_000005.8:g.148364499G>A	NCBI36
NG_007947.2:g.63432C>T , LRG_269:g.63432C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024577.4:c.3835C>T MANE Select	NP_078853.2:p.Arg1279Trp
ENST00000515425.6:c.3835C>T MANE Select	ENSP00000423660.1:p.Arg1279Trp
NM_024577.3:c.3835C>T , LRG_269t1:c.3835C>T	NP_078853.2:p.Arg1279Trp
ENST00000323829.9:c.*3223C>T	ENSP00000313025.5:n.*3223C>T
ENST00000502274.1:c.421C>T	ENSP00000421092.1:p.Arg141Trp
ENST00000502274.2:c.4688C>T
ENST00000504517.5:c.3357C>T	ENSP00000421779.1:n.3357C>T
ENST00000504690.5:c.3676-901C>T	ENSP00000425627.1:n.3676-901C>T
ENST00000510350.1:n.231+2138C>T
ENST00000510779.1:c.2885C>T
ENST00000512049.5:c.3814C>T	ENSP00000421860.1:p.Arg1272Trp
ENST00000515229.5:n.338-901C>T
ENST00000515425.5:c.3835C>T	ENSP00000423660.1:p.Arg1279Trp
ENST00000643113.1:c.151-901C>T
ENST00000675793.1:c.*4892C>T	ENSP00000502039.1:n.*4892C>T