Canonical Allele Identifier: CA595725972

Gene: SHOC2

Linked Data

• dbSNP Id: rs1202982504
• gnomAD v2: 10-112724824-GAGGCCT-G
• MyVariant Identifiers: chr10:g.112724825_112724830del (hg19) ; chr10:g.110965067_110965072del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110965067_110965072del , CM000672.2:g.110965067_110965072del	GRCh38
NC_000010.10:g.112724825_112724830del , CM000672.1:g.112724825_112724830del	GRCh37
NC_000010.9:g.112714815_112714820del	NCBI36
NG_028922.1:g.50525_50530del , LRG_753:g.50525_50530del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265277.10:c.703+6_703+11del	ENSP00000265277.5:n.703+6_703+11del
ENST00000451838.2:c.-242-35348_-242-35343del	ENSP00000408275.2:n.-242-35348_-242-35343del
ENST00000480155.2:n.939+6_939+11del
ENST00000685059.1:c.703+6_703+11del	ENSP00000510210.1:n.703+6_703+11del
ENST00000685613.1:c.703+6_703+11del	ENSP00000510564.1:n.703+6_703+11del
ENST00000687592.1:n.1002+6_1002+11del
ENST00000688928.1:c.703+6_703+11del	ENSP00000509273.1:n.703+6_703+11del
ENST00000689118.1:c.703+6_703+11del	ENSP00000510554.1:n.703+6_703+11del
ENST00000689300.1:c.703+6_703+11del	ENSP00000510639.1:n.703+6_703+11del
ENST00000689997.1:c.-380-20561_-380-20556del	ENSP00000510700.1:n.-380-20561_-380-20556del
ENST00000691151.1:n.1001_1006del
ENST00000691369.1:c.703+6_703+11del	ENSP00000509754.1:n.703+6_703+11del
ENST00000691441.1:c.703+6_703+11del	ENSP00000509686.1:n.703+6_703+11del
ENST00000691903.1:c.703+6_703+11del	ENSP00000510314.1:n.703+6_703+11del
ENST00000692776.1:c.703+6_703+11del	ENSP00000508524.1:n.703+6_703+11del
ENST00000369452.9:c.703+6_703+11del MANE Select	ENSP00000358464.5:n.703+6_703+11del
ENST00000265277.9:c.703+6_703+11del	ENSP00000265277.5:n.703+6_703+11del
ENST00000369452.8:c.703+6_703+11del	ENSP00000358464.4:n.703+6_703+11del
ENST00000451838.1:c.211+6_211+11del	ENSP00000408275.1:n.211+6_211+11del
ENST00000489390.1:n.56-35348_56-35343del
ENST00000497305.1:n.30+6_30+11del
NM_001269039.1:c.703+6_703+11del	NP_001255968.1:n.703+6_703+11del
NM_007373.3:c.703+6_703+11del , LRG_753t1:c.703+6_703+11del	NP_031399.2:n.703+6_703+11del
XM_011540216.1:c.-380-20561_-380-20556del	XP_011538518.1:n.-380-20561_-380-20556del
NM_001269039.2:c.703+6_703+11del	NP_001255968.1:n.703+6_703+11del
NM_001324336.1:c.703+6_703+11del	NP_001311265.1:n.703+6_703+11del
NM_001324337.1:c.703+6_703+11del	NP_001311266.1:n.703+6_703+11del
NR_136749.1:n.116-20561_116-20556del
NM_007373.4:c.703+6_703+11del MANE Select	NP_031399.2:n.703+6_703+11del
NM_001269039.3:c.703+6_703+11del	NP_001255968.1:n.703+6_703+11del
NM_001324336.2:c.703+6_703+11del	NP_001311265.1:n.703+6_703+11del
NM_001324337.2:c.703+6_703+11del	NP_001311266.1:n.703+6_703+11del
NR_136749.2:n.55-20561_55-20556del