Canonical Allele Identifier: CA293480

Gene: SHOC2

Linked Data

• ClinVar Variation Id: 139107
• ClinVar RCV Id: RCV000128040 ; RCV000356842 ; RCV002055801 ; RCV001723705
• dbSNP Id: rs201258692
• ExAC: 10:112745535 G / A
• gnomAD v2: 10-112745535-G-A
• gnomAD v3: 10-110985777-G-A
• gnomAD v4: 10-110985777-G-A
• MyVariant Identifiers: chr10:g.112745535G>A (hg19) ; chr10:g.110985777G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110985777G>A , CM000672.2:g.110985777G>A	GRCh38
NC_000010.10:g.112745535G>A , CM000672.1:g.112745535G>A	GRCh37
NC_000010.9:g.112735525G>A	NCBI36
NG_028922.1:g.71235G>A , LRG_753:g.71235G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265277.10:c.704-14638G>A	ENSP00000265277.5:n.704-14638G>A
ENST00000451838.2:c.-242-14638G>A	ENSP00000408275.2:n.-242-14638G>A
ENST00000480155.2:n.1194+12G>A
ENST00000685059.1:c.841+12G>A	ENSP00000510210.1:n.841+12G>A
ENST00000685613.1:c.841+12G>A	ENSP00000510564.1:n.841+12G>A
ENST00000687592.1:n.1140+12G>A
ENST00000688928.1:c.841+12G>A	ENSP00000509273.1:n.841+12G>A
ENST00000689118.1:c.841+12G>A	ENSP00000510554.1:n.841+12G>A
ENST00000689300.1:c.841+12G>A	ENSP00000510639.1:n.841+12G>A
ENST00000689997.1:c.-243+12G>A	ENSP00000510700.1:n.-243+12G>A
ENST00000691369.1:c.841+12G>A	ENSP00000509754.1:n.841+12G>A
ENST00000691441.1:c.841+12G>A	ENSP00000509686.1:n.841+12G>A
ENST00000691843.1:n.782+12G>A
ENST00000691903.1:c.841+12G>A	ENSP00000510314.1:n.841+12G>A
ENST00000692776.1:c.841+12G>A	ENSP00000508524.1:n.841+12G>A
ENST00000369452.9:c.841+12G>A MANE Select	ENSP00000358464.5:n.841+12G>A
ENST00000265277.9:c.704-14638G>A	ENSP00000265277.5:n.704-14638G>A
ENST00000369452.8:c.841+12G>A	ENSP00000358464.4:n.841+12G>A
ENST00000451838.1:c.212-14638G>A	ENSP00000408275.1:n.212-14638G>A
ENST00000489390.1:n.56-14638G>A
ENST00000497305.1:n.180G>A
NM_001269039.1:c.704-14638G>A	NP_001255968.1:n.704-14638G>A
NM_007373.3:c.841+12G>A , LRG_753t1:c.841+12G>A	NP_031399.2:n.841+12G>A
XM_011540216.1:c.-243+12G>A	XP_011538518.1:n.-243+12G>A
NM_001269039.2:c.704-14638G>A	NP_001255968.1:n.704-14638G>A
NM_001324336.1:c.841+12G>A	NP_001311265.1:n.841+12G>A
NM_001324337.1:c.841+12G>A	NP_001311266.1:n.841+12G>A
NR_136749.1:n.253+12G>A
NM_007373.4:c.841+12G>A MANE Select	NP_031399.2:n.841+12G>A
NM_001269039.3:c.704-14638G>A	NP_001255968.1:n.704-14638G>A
NM_001324336.2:c.841+12G>A	NP_001311265.1:n.841+12G>A
NM_001324337.2:c.841+12G>A	NP_001311266.1:n.841+12G>A
NR_136749.2:n.192+12G>A