Canonical Allele Identifier: CA3498661

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149006906C>T , CM000667.2:g.149006906C>T	GRCh38
NC_000005.9:g.148386469C>T , CM000667.1:g.148386469C>T	GRCh37
NC_000005.8:g.148366662C>T	NCBI36
NG_007947.2:g.61269G>A , LRG_269:g.61269G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024577.4:c.3650G>A MANE Select	NP_078853.2:p.Gly1217Asp
ENST00000515425.6:c.3650G>A MANE Select	ENSP00000423660.1:p.Gly1217Asp
NM_024577.3:c.3650G>A , LRG_269t1:c.3650G>A	NP_078853.2:p.Gly1217Asp
ENST00000323829.9:c.*3038G>A	ENSP00000313025.5:n.*3038G>A
ENST00000502274.1:c.236G>A	ENSP00000421092.1:p.Gly79Asp
ENST00000502274.2:c.4503G>A
ENST00000504517.5:c.3172G>A	ENSP00000421779.1:n.3172G>A
ENST00000504690.5:c.3650G>A	ENSP00000425627.1:p.Gly1217Asp
ENST00000510350.1:n.206G>A
ENST00000510779.1:c.2700G>A
ENST00000512049.5:c.3629G>A	ENSP00000421860.1:p.Gly1210Asp
ENST00000515229.5:n.312G>A
ENST00000515425.5:c.3650G>A	ENSP00000423660.1:p.Gly1217Asp
ENST00000643113.1:c.7G>A
ENST00000675793.1:c.*4707G>A	ENSP00000502039.1:n.*4707G>A