Canonical Allele Identifier: CA2557491157

Gene: SHOC2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.111012166_111012167del , CM000672.2:g.111012166_111012167del	GRCh38
NC_000010.10:g.112771924_112771925del , CM000672.1:g.112771924_112771925del	GRCh37
NC_000010.9:g.112761914_112761915del	NCBI36
NG_028922.1:g.97624_97625del , LRG_753:g.97624_97625del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265277.10:c.*348_*349del	ENSP00000265277.5:n.*348_*349del
ENST00000451838.2:c.*348_*349del	ENSP00000408275.2:n.*348_*349del
ENST00000685059.1:c.*348_*349del	ENSP00000510210.1:n.*348_*349del
ENST00000685613.1:c.*1093_*1094del	ENSP00000510564.1:n.*1093_*1094del
ENST00000688928.1:c.*348_*349del	ENSP00000509273.1:n.*348_*349del
ENST00000689118.1:c.*348_*349del	ENSP00000510554.1:n.*348_*349del
ENST00000689300.1:c.*348_*349del	ENSP00000510639.1:n.*348_*349del
ENST00000689997.1:c.*348_*349del	ENSP00000510700.1:n.*348_*349del
ENST00000691369.1:c.*348_*349del	ENSP00000509754.1:n.*348_*349del
ENST00000691441.1:c.*348_*349del	ENSP00000509686.1:n.*348_*349del
ENST00000691903.1:c.*539_*540del	ENSP00000510314.1:n.*539_*540del
ENST00000369452.9:c.*348_*349del MANE Select	ENSP00000358464.5:n.*348_*349del
ENST00000265277.9:c.*348_*349del	ENSP00000265277.5:n.*348_*349del
ENST00000369452.8:c.*348_*349del	ENSP00000358464.4:n.*348_*349del
ENST00000451838.1:c.1467_1468del	ENSP00000408275.1:n.1467_1468del
NM_001269039.1:c.*348_*349del	NP_001255968.1:n.*348_*349del
NM_007373.3:c.*348_*349del , LRG_753t1:c.*348_*349del	NP_031399.2:n.*348_*349del
XM_011540216.1:c.*348_*349del	XP_011538518.1:n.*348_*349del
NM_001269039.2:c.*348_*349del	NP_001255968.1:n.*348_*349del
NM_001324336.1:c.*348_*349del	NP_001311265.1:n.*348_*349del
NM_001324337.1:c.*348_*349del	NP_001311266.1:n.*348_*349del
NR_136749.1:n.1509_1510del
NM_007373.4:c.*348_*349del MANE Select	NP_031399.2:n.*348_*349del
NM_001269039.3:c.*348_*349del	NP_001255968.1:n.*348_*349del
NM_001324336.2:c.*348_*349del	NP_001311265.1:n.*348_*349del
NM_001324337.2:c.*348_*349del	NP_001311266.1:n.*348_*349del
NR_136749.2:n.1448_1449del