Canonical Allele Identifier: CA659837661

Gene: SHOC2

Linked Data

• dbSNP Id: rs1344056123
• gnomAD v3: 10-110964163-C-CTTAA
• gnomAD v4: 10-110964163-C-CTTAA
• MyVariant Identifiers: chr10:g.112723921_112723922insTTAA (hg19) ; chr10:g.110964163_110964164insTTAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110964163_110964164insTTAA , CM000672.2:g.110964163_110964164insTTAA	GRCh38
NC_000010.10:g.112723921_112723922insTTAA , CM000672.1:g.112723921_112723922insTTAA	GRCh37
NC_000010.9:g.112713911_112713912insTTAA	NCBI36
NG_028922.1:g.49621_49622insTTAA , LRG_753:g.49621_49622insTTAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000265277.10:c.-196_-195insTTAA	ENSP00000265277.5:n.-196_-195insTTAA
ENST00000451838.2:c.-242-36252_-242-36251insTTAA	ENSP00000408275.2:n.-242-36252_-242-36251insTTAA
ENST00000480155.2:n.41_42insTTAA
ENST00000685059.1:c.-196_-195insTTAA	ENSP00000510210.1:n.-196_-195insTTAA
ENST00000685613.1:c.-196_-195insTTAA	ENSP00000510564.1:n.-196_-195insTTAA
ENST00000687592.1:n.104_105insTTAA
ENST00000688928.1:c.-196_-195insTTAA	ENSP00000509273.1:n.-196_-195insTTAA
ENST00000689118.1:c.-196_-195insTTAA	ENSP00000510554.1:n.-196_-195insTTAA
ENST00000689300.1:c.-196_-195insTTAA	ENSP00000510639.1:n.-196_-195insTTAA
ENST00000689997.1:c.-380-21465_-380-21464insTTAA	ENSP00000510700.1:n.-380-21465_-380-21464insTTAA
ENST00000691151.1:n.97_98insTTAA
ENST00000691369.1:c.-196_-195insTTAA	ENSP00000509754.1:n.-196_-195insTTAA
ENST00000691441.1:c.-196_-195insTTAA	ENSP00000509686.1:n.-196_-195insTTAA
ENST00000691903.1:c.-196_-195insTTAA	ENSP00000510314.1:n.-196_-195insTTAA
ENST00000692776.1:c.-196_-195insTTAA	ENSP00000508524.1:n.-196_-195insTTAA
ENST00000369452.9:c.-196_-195insTTAA MANE Select	ENSP00000358464.5:n.-196_-195insTTAA
ENST00000265277.9:c.-196_-195insTTAA	ENSP00000265277.5:n.-196_-195insTTAA
ENST00000369452.8:c.-196_-195insTTAA	ENSP00000358464.4:n.-196_-195insTTAA
ENST00000480155.1:n.289_290insTTAA
ENST00000489390.1:n.56-36252_56-36251insTTAA
ENST00000489783.1:n.183_184insTTAA
NM_001269039.1:c.-196_-195insTTAA	NP_001255968.1:n.-196_-195insTTAA
NM_007373.3:c.-196_-195insTTAA , LRG_753t1:c.-196_-195insTTAA	NP_031399.2:n.-196_-195insTTAA
XM_011540216.1:c.-380-21465_-380-21464insTTAA	XP_011538518.1:n.-380-21465_-380-21464insTTAA
NM_001269039.2:c.-196_-195insTTAA	NP_001255968.1:n.-196_-195insTTAA
NM_001324336.1:c.-196_-195insTTAA	NP_001311265.1:n.-196_-195insTTAA
NM_001324337.1:c.-196_-195insTTAA	NP_001311266.1:n.-196_-195insTTAA
NR_136749.1:n.116-21465_116-21464insTTAA
NM_007373.4:c.-196_-195insTTAA MANE Select	NP_031399.2:n.-196_-195insTTAA
NM_001269039.3:c.-196_-195insTTAA	NP_001255968.1:n.-196_-195insTTAA
NM_001324336.2:c.-196_-195insTTAA	NP_001311265.1:n.-196_-195insTTAA
NM_001324337.2:c.-196_-195insTTAA	NP_001311266.1:n.-196_-195insTTAA
NR_136749.2:n.55-21465_55-21464insTTAA