Canonical Allele Identifier: CA297168

Gene: SHOC2

Linked Data

• ClinVar Variation Id: 181525
• ClinVar RCV Id: RCV000247713 ; RCV000347679 ; RCV001813416
• dbSNP Id: rs143187497
• ExAC: 10:112771579 T / C
• gnomAD v2: 10-112771579-T-C
• gnomAD v3: 10-111011821-T-C
• gnomAD v4: 10-111011821-T-C
• MyVariant Identifiers: chr10:g.112771579T>C (hg19) ; chr10:g.111011821T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.111011821T>C , CM000672.2:g.111011821T>C	GRCh38
NC_000010.10:g.112771579T>C , CM000672.1:g.112771579T>C	GRCh37
NC_000010.9:g.112761569T>C	NCBI36
NG_028922.1:g.97279T>C , LRG_753:g.97279T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265277.10:c.*3T>C	ENSP00000265277.5:n.*3T>C
ENST00000451838.2:c.*3T>C	ENSP00000408275.2:n.*3T>C
ENST00000685059.1:c.*3T>C	ENSP00000510210.1:n.*3T>C
ENST00000685613.1:c.*748T>C	ENSP00000510564.1:n.*748T>C
ENST00000688928.1:c.*3T>C	ENSP00000509273.1:n.*3T>C
ENST00000689118.1:c.*3T>C	ENSP00000510554.1:n.*3T>C
ENST00000689300.1:c.*3T>C	ENSP00000510639.1:n.*3T>C
ENST00000689997.1:c.*3T>C	ENSP00000510700.1:n.*3T>C
ENST00000691369.1:c.*3T>C	ENSP00000509754.1:n.*3T>C
ENST00000691441.1:c.*3T>C	ENSP00000509686.1:n.*3T>C
ENST00000691903.1:c.*194T>C	ENSP00000510314.1:n.*194T>C
ENST00000369452.9:c.*3T>C MANE Select	ENSP00000358464.5:n.*3T>C
ENST00000265277.9:c.*3T>C	ENSP00000265277.5:n.*3T>C
ENST00000369452.8:c.*3T>C	ENSP00000358464.4:n.*3T>C
ENST00000451838.1:c.1122T>C	ENSP00000408275.1:n.1122T>C
NM_001269039.1:c.*3T>C	NP_001255968.1:n.*3T>C
NM_007373.3:c.*3T>C , LRG_753t1:c.*3T>C	NP_031399.2:n.*3T>C
XM_011540216.1:c.*3T>C	XP_011538518.1:n.*3T>C
NM_001269039.2:c.*3T>C	NP_001255968.1:n.*3T>C
NM_001324336.1:c.*3T>C	NP_001311265.1:n.*3T>C
NM_001324337.1:c.*3T>C	NP_001311266.1:n.*3T>C
NR_136749.1:n.1164T>C
NM_007373.4:c.*3T>C MANE Select	NP_031399.2:n.*3T>C
NM_001269039.3:c.*3T>C	NP_001255968.1:n.*3T>C
NM_001324336.2:c.*3T>C	NP_001311265.1:n.*3T>C
NM_001324337.2:c.*3T>C	NP_001311266.1:n.*3T>C
NR_136749.2:n.1103T>C