Canonical Allele Identifier: CA10631030

Gene: SHOC2

Linked Data

• ClinVar Variation Id: 298867
• ClinVar RCV Id: RCV000351297
• dbSNP Id: rs371679867
• gnomAD v2: 10-112772081-CTTTT-C
• gnomAD v3: 10-111012323-CTTTT-C
• gnomAD v4: 10-111012323-CTTTT-C
• MyVariant Identifiers: chr10:g.112772082_112772085del (hg19) ; chr10:g.111012324_111012327del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.111012324_111012327del , CM000672.2:g.111012324_111012327del	GRCh38
NC_000010.10:g.112772082_112772085del , CM000672.1:g.112772082_112772085del	GRCh37
NC_000010.9:g.112762072_112762075del	NCBI36
NG_028922.1:g.97782_97785del , LRG_753:g.97782_97785del

Transcript Alleles

HGVS	Amino-acid change
ENST00000265277.10:c.*506_*509del	ENSP00000265277.5:n.*506_*509del
ENST00000451838.2:c.*506_*509del	ENSP00000408275.2:n.*506_*509del
ENST00000685059.1:c.*506_*509del	ENSP00000510210.1:n.*506_*509del
ENST00000685613.1:c.*1251_*1254del	ENSP00000510564.1:n.*1251_*1254del
ENST00000688928.1:c.*506_*509del	ENSP00000509273.1:n.*506_*509del
ENST00000689118.1:c.*506_*509del	ENSP00000510554.1:n.*506_*509del
ENST00000689300.1:c.*506_*509del	ENSP00000510639.1:n.*506_*509del
ENST00000689997.1:c.*506_*509del	ENSP00000510700.1:n.*506_*509del
ENST00000691369.1:c.*506_*509del	ENSP00000509754.1:n.*506_*509del
ENST00000691441.1:c.*506_*509del	ENSP00000509686.1:n.*506_*509del
ENST00000691903.1:c.*697_*700del	ENSP00000510314.1:n.*697_*700del
ENST00000369452.9:c.*506_*509del MANE Select	ENSP00000358464.5:n.*506_*509del
ENST00000265277.9:c.*506_*509del	ENSP00000265277.5:n.*506_*509del
ENST00000369452.8:c.*506_*509del	ENSP00000358464.4:n.*506_*509del
ENST00000451838.1:c.1625_1628del	ENSP00000408275.1:n.1625_1628del
NM_001269039.1:c.*506_*509del	NP_001255968.1:n.*506_*509del
NM_007373.3:c.*506_*509del , LRG_753t1:c.*506_*509del	NP_031399.2:n.*506_*509del
XM_011540216.1:c.*506_*509del	XP_011538518.1:n.*506_*509del
NM_001269039.2:c.*506_*509del	NP_001255968.1:n.*506_*509del
NM_001324336.1:c.*506_*509del	NP_001311265.1:n.*506_*509del
NM_001324337.1:c.*506_*509del	NP_001311266.1:n.*506_*509del
NR_136749.1:n.1667_1670del
NM_007373.4:c.*506_*509del MANE Select	NP_031399.2:n.*506_*509del
NM_001269039.3:c.*506_*509del	NP_001255968.1:n.*506_*509del
NM_001324336.2:c.*506_*509del	NP_001311265.1:n.*506_*509del
NM_001324337.2:c.*506_*509del	NP_001311266.1:n.*506_*509del
NR_136749.2:n.1606_1609del