Canonical Allele Identifier: CA10634683

Gene: SHOC2

Linked Data

• ClinVar Variation Id: 298883
• ClinVar RCV Id: RCV000293122
• dbSNP Id: rs549502834
• gnomAD v2: 10-112773061-G-GT
• gnomAD v3: 10-111013303-G-GT
• gnomAD v4: 10-111013303-G-GT
• MyVariant Identifiers: chr10:g.112773062dupT (hg19) ; chr10:g.112773062_112773063insT (hg19) ; chr10:g.112773061_112773062insT (hg19) ; chr10:g.111013304dupT (hg38) ; chr10:g.111013304_111013305insT (hg38) ; chr10:g.111013303_111013304insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.111013304dup , CM000672.2:g.111013304dup	GRCh38
NC_000010.10:g.112773062dup , CM000672.1:g.112773062dup	GRCh37
NC_000010.9:g.112763052dup	NCBI36
NG_028922.1:g.98762dup , LRG_753:g.98762dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000265277.10:c.*1486dup	ENSP00000265277.5:n.*1486dup
ENST00000451838.2:c.*1486dup	ENSP00000408275.2:n.*1486dup
ENST00000685059.1:c.*1486dup	ENSP00000510210.1:n.*1486dup
ENST00000685613.1:c.*2231dup	ENSP00000510564.1:n.*2231dup
ENST00000688928.1:c.*1486dup	ENSP00000509273.1:n.*1486dup
ENST00000689118.1:c.*1486dup	ENSP00000510554.1:n.*1486dup
ENST00000689300.1:c.*1486dup	ENSP00000510639.1:n.*1486dup
ENST00000689997.1:c.*1486dup	ENSP00000510700.1:n.*1486dup
ENST00000691369.1:c.*1486dup	ENSP00000509754.1:n.*1486dup
ENST00000691441.1:c.*1486dup	ENSP00000509686.1:n.*1486dup
ENST00000691903.1:c.*1677dup	ENSP00000510314.1:n.*1677dup
ENST00000369452.9:c.*1486dup MANE Select	ENSP00000358464.5:n.*1486dup
ENST00000265277.9:c.*1486dup	ENSP00000265277.5:n.*1486dup
ENST00000369452.8:c.*1486dup	ENSP00000358464.4:n.*1486dup
ENST00000451838.1:c.2605dup	ENSP00000408275.1:n.2605dup
NM_001269039.1:c.*1486dup	NP_001255968.1:n.*1486dup
NM_007373.3:c.*1486dup , LRG_753t1:c.*1486dup	NP_031399.2:n.*1486dup
XM_011540216.1:c.*1486dup	XP_011538518.1:n.*1486dup
NM_001269039.2:c.*1486dup	NP_001255968.1:n.*1486dup
NM_001324336.1:c.*1486dup	NP_001311265.1:n.*1486dup
NM_001324337.1:c.*1486dup	NP_001311266.1:n.*1486dup
NR_136749.1:n.2647dup
NM_007373.4:c.*1486dup MANE Select	NP_031399.2:n.*1486dup
NM_001269039.3:c.*1486dup	NP_001255968.1:n.*1486dup
NM_001324336.2:c.*1486dup	NP_001311265.1:n.*1486dup
NM_001324337.2:c.*1486dup	NP_001311266.1:n.*1486dup
NR_136749.2:n.2586dup