Canonical Allele Identifier: CA5689764

Gene: SHOC2

Linked Data

• ClinVar Variation Id: 298864
• ClinVar RCV Id: RCV000321001 ; RCV001465122
• dbSNP Id: rs750754038
• ExAC: 10:112769149 CATT / C
• gnomAD v2: 10-112769149-CATT-C
• gnomAD v3: 10-111009391-CATT-C
• gnomAD v4: 10-111009391-CATT-C
• MyVariant Identifiers: chr10:g.112769152_112769154del (hg19) ; chr10:g.112769150_112769152del (hg19) ; chr10:g.111009394_111009396del (hg38) ; chr10:g.111009392_111009394del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.111009394_111009396del , CM000672.2:g.111009394_111009396del	GRCh38
NC_000010.10:g.112769152_112769154del , CM000672.1:g.112769152_112769154del	GRCh37
NC_000010.9:g.112759142_112759144del	NCBI36
NG_028922.1:g.94852_94854del , LRG_753:g.94852_94854del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265277.10:c.1284+9_1284+11del	ENSP00000265277.5:n.1284+9_1284+11del
ENST00000451838.2:c.339+9_339+11del	ENSP00000408275.2:n.339+9_339+11del
ENST00000685059.1:c.1422+9_1422+11del	ENSP00000510210.1:n.1422+9_1422+11del
ENST00000685613.1:c.*418+9_*418+11del	ENSP00000510564.1:n.*418+9_*418+11del
ENST00000687592.1:n.1730_1732del
ENST00000688928.1:c.1422+9_1422+11del	ENSP00000509273.1:n.1422+9_1422+11del
ENST00000689118.1:c.1422+9_1422+11del	ENSP00000510554.1:n.1422+9_1422+11del
ENST00000689300.1:c.1422+9_1422+11del	ENSP00000510639.1:n.1422+9_1422+11del
ENST00000689997.1:c.339+9_339+11del	ENSP00000510700.1:n.339+9_339+11del
ENST00000691369.1:c.1422+9_1422+11del	ENSP00000509754.1:n.1422+9_1422+11del
ENST00000691441.1:c.1422+9_1422+11del	ENSP00000509686.1:n.1422+9_1422+11del
ENST00000691903.1:c.1422+9_1422+11del	ENSP00000510314.1:n.1422+9_1422+11del
ENST00000692776.1:c.1422+9_1422+11del	ENSP00000508524.1:n.1422+9_1422+11del
ENST00000369452.9:c.1422+9_1422+11del MANE Select	ENSP00000358464.5:n.1422+9_1422+11del
ENST00000265277.9:c.1284+9_1284+11del	ENSP00000265277.5:n.1284+9_1284+11del
ENST00000369452.8:c.1422+9_1422+11del	ENSP00000358464.4:n.1422+9_1422+11del
ENST00000451838.1:c.792+9_792+11del	ENSP00000408275.1:n.792+9_792+11del
ENST00000489390.1:n.636+9_636+11del
NM_001269039.1:c.1284+9_1284+11del	NP_001255968.1:n.1284+9_1284+11del
NM_007373.3:c.1422+9_1422+11del , LRG_753t1:c.1422+9_1422+11del	NP_031399.2:n.1422+9_1422+11del
XM_011540216.1:c.339+9_339+11del	XP_011538518.1:n.339+9_339+11del
NM_001269039.2:c.1284+9_1284+11del	NP_001255968.1:n.1284+9_1284+11del
NM_001324336.1:c.1422+9_1422+11del	NP_001311265.1:n.1422+9_1422+11del
NM_001324337.1:c.1422+9_1422+11del	NP_001311266.1:n.1422+9_1422+11del
NR_136749.1:n.834+9_834+11del
NM_007373.4:c.1422+9_1422+11del MANE Select	NP_031399.2:n.1422+9_1422+11del
NM_001269039.3:c.1284+9_1284+11del	NP_001255968.1:n.1284+9_1284+11del
NM_001324336.2:c.1422+9_1422+11del	NP_001311265.1:n.1422+9_1422+11del
NM_001324337.2:c.1422+9_1422+11del	NP_001311266.1:n.1422+9_1422+11del
NR_136749.2:n.773+9_773+11del