Canonical Allele Identifier: CA10634973

Gene: SHOC2

Linked Data

• ClinVar Variation Id: 298870
• ClinVar RCV Id: RCV000368817
• dbSNP Id: rs886046733
• gnomAD v3: 10-111012433-GA-G
• gnomAD v4: 10-111012433-GA-G
• MyVariant Identifiers: chr10:g.112772201del (hg19) ; chr10:g.112772192del (hg19) ; chr10:g.111012443del (hg38) ; chr10:g.111012434del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.111012443del , CM000672.2:g.111012443del	GRCh38
NC_000010.10:g.112772201del , CM000672.1:g.112772201del	GRCh37
NC_000010.9:g.112762191del	NCBI36
NG_028922.1:g.97901del , LRG_753:g.97901del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265277.10:c.*625del	ENSP00000265277.5:n.*625del
ENST00000451838.2:c.*625del	ENSP00000408275.2:n.*625del
ENST00000685059.1:c.*625del	ENSP00000510210.1:n.*625del
ENST00000685613.1:c.*1370del	ENSP00000510564.1:n.*1370del
ENST00000688928.1:c.*625del	ENSP00000509273.1:n.*625del
ENST00000689118.1:c.*625del	ENSP00000510554.1:n.*625del
ENST00000689300.1:c.*625del	ENSP00000510639.1:n.*625del
ENST00000689997.1:c.*625del	ENSP00000510700.1:n.*625del
ENST00000691369.1:c.*625del	ENSP00000509754.1:n.*625del
ENST00000691441.1:c.*625del	ENSP00000509686.1:n.*625del
ENST00000691903.1:c.*816del	ENSP00000510314.1:n.*816del
ENST00000369452.9:c.*625del MANE Select	ENSP00000358464.5:n.*625del
ENST00000265277.9:c.*625del	ENSP00000265277.5:n.*625del
ENST00000369452.8:c.*625del	ENSP00000358464.4:n.*625del
ENST00000451838.1:c.1744del	ENSP00000408275.1:n.1744del
NM_001269039.1:c.*625del	NP_001255968.1:n.*625del
NM_007373.3:c.*625del , LRG_753t1:c.*625del	NP_031399.2:n.*625del
XM_011540216.1:c.*625del	XP_011538518.1:n.*625del
NM_001269039.2:c.*625del	NP_001255968.1:n.*625del
NM_001324336.1:c.*625del	NP_001311265.1:n.*625del
NM_001324337.1:c.*625del	NP_001311266.1:n.*625del
NR_136749.1:n.1786del
NM_007373.4:c.*625del MANE Select	NP_031399.2:n.*625del
NM_001269039.3:c.*625del	NP_001255968.1:n.*625del
NM_001324336.2:c.*625del	NP_001311265.1:n.*625del
NM_001324337.2:c.*625del	NP_001311266.1:n.*625del
NR_136749.2:n.1725del