Canonical Allele Identifier: CA3498614

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149004742C>T , CM000667.2:g.149004742C>T	GRCh38
NC_000005.9:g.148384305C>T , CM000667.1:g.148384305C>T	GRCh37
NC_000005.8:g.148364498C>T	NCBI36
NG_007947.2:g.63433G>A , LRG_269:g.63433G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024577.4:c.3836G>A MANE Select	NP_078853.2:p.Arg1279Gln
ENST00000515425.6:c.3836G>A MANE Select	ENSP00000423660.1:p.Arg1279Gln
NM_024577.3:c.3836G>A , LRG_269t1:c.3836G>A	NP_078853.2:p.Arg1279Gln
ENST00000323829.9:c.*3224G>A	ENSP00000313025.5:n.*3224G>A
ENST00000502274.1:c.422G>A	ENSP00000421092.1:p.Arg141Gln
ENST00000502274.2:c.4689G>A
ENST00000504517.5:c.3358G>A	ENSP00000421779.1:n.3358G>A
ENST00000504690.5:c.3676-900G>A	ENSP00000425627.1:n.3676-900G>A
ENST00000510350.1:n.231+2139G>A
ENST00000510779.1:c.2886G>A
ENST00000512049.5:c.3815G>A	ENSP00000421860.1:p.Arg1272Gln
ENST00000515229.5:n.338-900G>A
ENST00000515425.5:c.3836G>A	ENSP00000423660.1:p.Arg1279Gln
ENST00000643113.1:c.151-900G>A
ENST00000675793.1:c.*4893G>A	ENSP00000502039.1:n.*4893G>A