Canonical Allele Identifier: CA3498784

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149010292T>C , CM000667.2:g.149010292T>C	GRCh38
NC_000005.9:g.148389855T>C , CM000667.1:g.148389855T>C	GRCh37
NC_000005.8:g.148370048T>C	NCBI36
NG_007947.2:g.57883A>G , LRG_269:g.57883A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024577.4:c.3305A>G MANE Select	NP_078853.2:p.His1102Arg
ENST00000515425.6:c.3305A>G MANE Select	ENSP00000423660.1:p.His1102Arg
NM_024577.3:c.3305A>G , LRG_269t1:c.3305A>G	NP_078853.2:p.His1102Arg
ENST00000323829.9:c.*2693A>G	ENSP00000313025.5:n.*2693A>G
ENST00000502274.2:c.3201A>G
ENST00000504517.5:c.2835A>G	ENSP00000421779.1:n.2835A>G
ENST00000504690.5:c.3305A>G	ENSP00000425627.1:p.His1102Arg
ENST00000510779.1:c.2355A>G
ENST00000512049.5:c.3284A>G	ENSP00000421860.1:p.His1095Arg
ENST00000515425.5:c.3305A>G	ENSP00000423660.1:p.His1102Arg
ENST00000675793.1:c.*2589A>G	ENSP00000502039.1:n.*2589A>G