Canonical Allele Identifier: CA1139659191

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149004915T>C , CM000667.2:g.149004915T>C	GRCh38
NC_000005.9:g.148384478T>C , CM000667.1:g.148384478T>C	GRCh37
NC_000005.8:g.148364671T>C	NCBI36
NG_007947.2:g.63260A>G , LRG_269:g.63260A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024577.4:c.3676-13A>G MANE Select	NP_078853.2:n.3676-13A>G
ENST00000515425.6:c.3676-13A>G MANE Select	ENSP00000423660.1:n.3676-13A>G
NM_024577.3:c.3676-13A>G , LRG_269t1:c.3676-13A>G	NP_078853.2:n.3676-13A>G
ENST00000323829.9:c.*3064-13A>G	ENSP00000313025.5:n.*3064-13A>G
ENST00000502274.1:c.262-13A>G	ENSP00000421092.1:n.262-13A>G
ENST00000502274.2:c.4529-13A>G
ENST00000504517.5:c.3198-13A>G	ENSP00000421779.1:n.3198-13A>G
ENST00000504690.5:c.3676-1073A>G	ENSP00000425627.1:n.3676-1073A>G
ENST00000510350.1:n.231+1966A>G
ENST00000510779.1:c.2726-13A>G
ENST00000512049.5:c.3655-13A>G	ENSP00000421860.1:n.3655-13A>G
ENST00000515229.5:n.338-1073A>G
ENST00000515425.5:c.3676-13A>G	ENSP00000423660.1:n.3676-13A>G
ENST00000643113.1:c.151-1073A>G
ENST00000675793.1:c.*4733-13A>G	ENSP00000502039.1:n.*4733-13A>G