Canonical Allele Identifier: CA5689793
Gene: SHOC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 448937
ClinVar RCV Id: RCV000519969
dbSNP Id: rs771283010
ExAC: 10:112769596 C / A
gnomAD v2: 10-112769596-C-A
gnomAD v3: 10-111009838-C-A
gnomAD v4: 10-111009838-C-A
MyVariant Identifiers: chr10:g.112769596C>A (hg19) chr10:g.111009838C>A (hg38)
ERepo: CA5689793/MONDO:0021060/004
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.111009838C>A , CM000672.2:g.111009838C>A GRCh38
NC_000010.10:g.112769596C>A , CM000672.1:g.112769596C>A GRCh37
NC_000010.9:g.112759586C>A NCBI36
NG_028922.1:g.95296C>A , LRG_753:g.95296C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265277.10:c.1402+8C>A ENSP00000265277.5:n.1402+8C>A
ENST00000451838.2:c.457+8C>A ENSP00000408275.2:n.457+8C>A
ENST00000685059.1:c.1540+8C>A ENSP00000510210.1:n.1540+8C>A
ENST00000685613.1:c.*536+8C>A ENSP00000510564.1:n.*536+8C>A
ENST00000687592.1:n.2174C>A
ENST00000688928.1:c.1540+8C>A ENSP00000509273.1:n.1540+8C>A
ENST00000689118.1:c.1540+8C>A ENSP00000510554.1:n.1540+8C>A
ENST00000689300.1:c.1540+8C>A ENSP00000510639.1:n.1540+8C>A
ENST00000689997.1:c.457+8C>A ENSP00000510700.1:n.457+8C>A
ENST00000691369.1:c.1540+8C>A ENSP00000509754.1:n.1540+8C>A
ENST00000691441.1:c.1540+8C>A ENSP00000509686.1:n.1540+8C>A
ENST00000691903.1:c.1422+453C>A ENSP00000510314.1:n.1422+453C>A
ENST00000692776.1:c.1548C>A ENSP00000508524.1:p.Asn516Lys
ENST00000369452.9:c.1540+8C>A MANE Select ENSP00000358464.5:n.1540+8C>A
ENST00000265277.9:c.1402+8C>A ENSP00000265277.5:n.1402+8C>A
ENST00000369452.8:c.1540+8C>A ENSP00000358464.4:n.1540+8C>A
ENST00000451838.1:c.910+8C>A ENSP00000408275.1:n.910+8C>A
ENST00000489390.1:n.754+8C>A
NM_001269039.1:c.1402+8C>A NP_001255968.1:n.1402+8C>A
NM_007373.3:c.1540+8C>A , LRG_753t1:c.1540+8C>A NP_031399.2:n.1540+8C>A
XM_011540216.1:c.457+8C>A XP_011538518.1:n.457+8C>A
NM_001269039.2:c.1402+8C>A NP_001255968.1:n.1402+8C>A
NM_001324336.1:c.1540+8C>A NP_001311265.1:n.1540+8C>A
NM_001324337.1:c.1540+8C>A NP_001311266.1:n.1540+8C>A
NR_136749.1:n.952+8C>A
NM_007373.4:c.1540+8C>A MANE Select NP_031399.2:n.1540+8C>A
NM_001269039.3:c.1402+8C>A NP_001255968.1:n.1402+8C>A
NM_001324336.2:c.1540+8C>A NP_001311265.1:n.1540+8C>A
NM_001324337.2:c.1540+8C>A NP_001311266.1:n.1540+8C>A
NR_136749.2:n.891+8C>A
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