Canonical Allele Identifier: CA447107954

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148406154G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026591G>T , CM000667.2:g.149026591G>T	GRCh38
NC_000005.9:g.148406154G>T , CM000667.1:g.148406154G>T	GRCh37
NC_000005.8:g.148386347G>T	NCBI36
NG_007947.2:g.41584C>A , LRG_269:g.41584C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2930C>A
ENST00000515425.6:c.3034C>A MANE Select	ENSP00000423660.1:p.Arg1012=
ENST00000675793.1:c.*2318C>A	ENSP00000502039.1:n.*2318C>A
ENST00000676056.1:c.*2544C>A	ENSP00000501827.1:n.*2544C>A
ENST00000323829.9:c.*2422C>A	ENSP00000313025.5:n.*2422C>A
ENST00000504517.5:c.2564C>A	ENSP00000421779.1:n.2564C>A
ENST00000504690.5:c.3034C>A	ENSP00000425627.1:p.Arg1012=
ENST00000510779.1:c.2084C>A
ENST00000511307.5:c.*2921C>A	ENSP00000421420.1:n.*2921C>A
ENST00000512049.5:c.3013C>A	ENSP00000421860.1:p.Arg1005=
ENST00000513604.5:c.*2529C>A	ENSP00000423111.1:n.*2529C>A
ENST00000515425.5:c.3034C>A	ENSP00000423660.1:p.Arg1012=
NM_024577.3:c.3034C>A , LRG_269t1:c.3034C>A	NP_078853.2:p.Arg1012=
NM_024577.4:c.3034C>A MANE Select	NP_078853.2:p.Arg1012=