Canonical Allele Identifier: CA118524

Gene: SHOC2

Linked Data

• ClinVar Variation Id: 6821
• ClinVar RCV Id: RCV000007223 ; RCV000149834 ; RCV000208379 ; RCV000213000 ; RCV000624656 ; RCV000853278 ; RCV001813181 ; RCV002221469 ; RCV003330311
• dbSNP Id: rs267607048
• gnomAD v2: 10-112724120-A-G
• gnomAD v3: 10-110964362-A-G
• gnomAD v4: 10-110964362-A-G
• COSMIC: COSM5989369
• MyVariant Identifiers: chr10:g.112724120A>G (hg19) ; chr10:g.110964362A>G (hg38)
• ERepo: CA118524/MONDO:0054637/004
• PubMed: PMID:19684605 ; PMID:20882035 ; PMID:21396583 ; PMID:21548061 ; PMID:21784453 ; PMID:22253195 ; PMID:22419608 ; PMID:22528146 ; PMID:22995099 ; PMID:23756559 ; PMID:23786871 ; PMID:23885229 ; PMID:23891399 ; PMID:23918763 ; PMID:24458587 ; PMID:24458596 ; PMID:25137548 ; PMID:25326637 ; PMID:25563136 ; PMID:25846317 ; PMID:27479843 ; PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110964362A>G , CM000672.2:g.110964362A>G	GRCh38
NC_000010.10:g.112724120A>G , CM000672.1:g.112724120A>G	GRCh37
NC_000010.9:g.112714110A>G	NCBI36
NG_028922.1:g.49820A>G , LRG_753:g.49820A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265277.10:c.4A>G	ENSP00000265277.5:p.Ser2Gly
ENST00000451838.2:c.-242-36053A>G	ENSP00000408275.2:n.-242-36053A>G
ENST00000480155.2:n.240A>G
ENST00000685059.1:c.4A>G	ENSP00000510210.1:p.Ser2Gly
ENST00000685613.1:c.4A>G	ENSP00000510564.1:p.Ser2Gly
ENST00000687592.1:n.303A>G
ENST00000688928.1:c.4A>G	ENSP00000509273.1:p.Ser2Gly
ENST00000689118.1:c.4A>G	ENSP00000510554.1:p.Ser2Gly
ENST00000689300.1:c.4A>G	ENSP00000510639.1:p.Ser2Gly
ENST00000689997.1:c.-380-21266A>G	ENSP00000510700.1:n.-380-21266A>G
ENST00000691151.1:n.296A>G
ENST00000691369.1:c.4A>G	ENSP00000509754.1:p.Ser2Gly
ENST00000691441.1:c.4A>G	ENSP00000509686.1:p.Ser2Gly
ENST00000691903.1:c.4A>G	ENSP00000510314.1:p.Ser2Gly
ENST00000692776.1:c.4A>G	ENSP00000508524.1:p.Ser2Gly
ENST00000369452.9:c.4A>G MANE Select	ENSP00000358464.5:p.Ser2Gly
ENST00000265277.9:c.4A>G	ENSP00000265277.5:p.Ser2Gly
ENST00000369452.8:c.4A>G	ENSP00000358464.4:p.Ser2Gly
ENST00000480155.1:n.488A>G
ENST00000489390.1:n.56-36053A>G
ENST00000489783.1:n.382A>G
NM_001269039.1:c.4A>G	NP_001255968.1:p.Ser2Gly
NM_007373.3:c.4A>G , LRG_753t1:c.4A>G	NP_031399.2:p.Ser2Gly
XM_011540216.1:c.-380-21266A>G	XP_011538518.1:n.-380-21266A>G
NM_001269039.2:c.4A>G	NP_001255968.1:p.Ser2Gly
NM_001324336.1:c.4A>G	NP_001311265.1:p.Ser2Gly
NM_001324337.1:c.4A>G	NP_001311266.1:p.Ser2Gly
NR_136749.1:n.116-21266A>G
NM_007373.4:c.4A>G MANE Select	NP_031399.2:p.Ser2Gly
NM_001269039.3:c.4A>G	NP_001255968.1:p.Ser2Gly
NM_001324336.2:c.4A>G	NP_001311265.1:p.Ser2Gly
NM_001324337.2:c.4A>G	NP_001311266.1:p.Ser2Gly
NR_136749.2:n.55-21266A>G