Canonical Allele Identifier: CA361679292

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149047949C>G , CM000667.2:g.149047949C>G	GRCh38
NC_000005.9:g.148427512C>G , CM000667.1:g.148427512C>G	GRCh37
NC_000005.8:g.148407705C>G	NCBI36
NG_007947.2:g.20226G>C , LRG_269:g.20226G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024577.4:c.192G>C MANE Select	NP_078853.2:p.Arg64Ser
ENST00000515425.6:c.192G>C MANE Select	ENSP00000423660.1:p.Arg64Ser
NM_024577.3:c.192G>C , LRG_269t1:c.192G>C	NP_078853.2:p.Arg64Ser
ENST00000323829.9:c.192G>C	ENSP00000313025.5:p.Arg64Ser
ENST00000502274.2:c.140G>C
ENST00000504091.1:n.228G>C
ENST00000504690.5:c.192G>C	ENSP00000425627.1:p.Arg64Ser
ENST00000511307.5:c.192G>C	ENSP00000421420.1:p.Arg64Ser
ENST00000511949.5:n.262G>C
ENST00000512049.5:c.192G>C	ENSP00000421860.1:p.Arg64Ser
ENST00000513604.5:c.192G>C	ENSP00000423111.1:p.Arg64Ser
ENST00000515425.5:c.192G>C	ENSP00000423660.1:p.Arg64Ser
ENST00000674983.1:c.192G>C	ENSP00000502387.1:p.Arg64Ser
ENST00000675793.1:c.192G>C	ENSP00000502039.1:p.Arg64Ser
ENST00000676056.1:c.192G>C	ENSP00000501827.1:p.Arg64Ser