Canonical Allele Identifier: CA293485
Gene: SHOC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 139109
ClinVar RCV Id: RCV000128043 RCV000225847 RCV000378009 RCV001813390
dbSNP Id: rs180671383
ExAC: 10:112769464 C / T
gnomAD v2: 10-112769464-C-T
gnomAD v3: 10-111009706-C-T
gnomAD v4: 10-111009706-C-T
MyVariant Identifiers: chr10:g.112769464C>T (hg19) chr10:g.111009706C>T (hg38)
ERepo: CA293485/MONDO:0021060/004
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.111009706C>T , CM000672.2:g.111009706C>T GRCh38
NC_000010.10:g.112769464C>T , CM000672.1:g.112769464C>T GRCh37
NC_000010.9:g.112759454C>T NCBI36
NG_028922.1:g.95164C>T , LRG_753:g.95164C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265277.10:c.1285-7C>T ENSP00000265277.5:n.1285-7C>T
ENST00000451838.2:c.340-7C>T ENSP00000408275.2:n.340-7C>T
ENST00000685059.1:c.1423-7C>T ENSP00000510210.1:n.1423-7C>T
ENST00000685613.1:c.*419-7C>T ENSP00000510564.1:n.*419-7C>T
ENST00000687592.1:n.2042C>T
ENST00000688928.1:c.1423-7C>T ENSP00000509273.1:n.1423-7C>T
ENST00000689118.1:c.1423-7C>T ENSP00000510554.1:n.1423-7C>T
ENST00000689300.1:c.1423-7C>T ENSP00000510639.1:n.1423-7C>T
ENST00000689997.1:c.340-7C>T ENSP00000510700.1:n.340-7C>T
ENST00000691369.1:c.1423-7C>T ENSP00000509754.1:n.1423-7C>T
ENST00000691441.1:c.1423-7C>T ENSP00000509686.1:n.1423-7C>T
ENST00000691903.1:c.1422+321C>T ENSP00000510314.1:n.1422+321C>T
ENST00000692776.1:c.1423-7C>T ENSP00000508524.1:n.1423-7C>T
ENST00000369452.9:c.1423-7C>T MANE Select ENSP00000358464.5:n.1423-7C>T
ENST00000265277.9:c.1285-7C>T ENSP00000265277.5:n.1285-7C>T
ENST00000369452.8:c.1423-7C>T ENSP00000358464.4:n.1423-7C>T
ENST00000451838.1:c.793-7C>T ENSP00000408275.1:n.793-7C>T
ENST00000489390.1:n.637-7C>T
NM_001269039.1:c.1285-7C>T NP_001255968.1:n.1285-7C>T
NM_007373.3:c.1423-7C>T , LRG_753t1:c.1423-7C>T NP_031399.2:n.1423-7C>T
XM_011540216.1:c.340-7C>T XP_011538518.1:n.340-7C>T
NM_001269039.2:c.1285-7C>T NP_001255968.1:n.1285-7C>T
NM_001324336.1:c.1423-7C>T NP_001311265.1:n.1423-7C>T
NM_001324337.1:c.1423-7C>T NP_001311266.1:n.1423-7C>T
NR_136749.1:n.835-7C>T
NM_007373.4:c.1423-7C>T MANE Select NP_031399.2:n.1423-7C>T
NM_001269039.3:c.1285-7C>T NP_001255968.1:n.1285-7C>T
NM_001324336.2:c.1423-7C>T NP_001311265.1:n.1423-7C>T
NM_001324337.2:c.1423-7C>T NP_001311266.1:n.1423-7C>T
NR_136749.2:n.774-7C>T
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