Canonical Allele Identifier: CA293478

Gene: SHOC2

Linked Data

• ClinVar Variation Id: 139105
• ClinVar RCV Id: RCV000128038 ; RCV001103679
• dbSNP Id: rs192673935
• gnomAD v2: 10-112679406-G-T
• gnomAD v3: 10-110919648-G-T
• gnomAD v4: 10-110919648-G-T
• MyVariant Identifiers: chr10:g.112679406G>T (hg19) ; chr10:g.110919648G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110919648G>T , CM000672.2:g.110919648G>T	GRCh38
NC_000010.10:g.112679406G>T , CM000672.1:g.112679406G>T	GRCh37
NC_000010.9:g.112669396G>T	NCBI36
NG_028922.1:g.5106G>T , LRG_753:g.5106G>T
NG_041778.1:g.4719C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265277.10:c.-244G>T	ENSP00000265277.5:n.-244G>T
ENST00000451838.2:c.-252G>T	ENSP00000408275.2:n.-252G>T
ENST00000685059.1:c.-295G>T	ENSP00000510210.1:n.-295G>T
ENST00000685613.1:c.-244G>T	ENSP00000510564.1:n.-244G>T
ENST00000687592.1:n.56G>T
ENST00000688928.1:c.-235+207G>T	ENSP00000509273.1:n.-235+207G>T
ENST00000689118.1:c.-322G>T	ENSP00000510554.1:n.-322G>T
ENST00000689300.1:c.-527G>T	ENSP00000510639.1:n.-527G>T
ENST00000689997.1:c.-390G>T	ENSP00000510700.1:n.-390G>T
ENST00000691151.1:n.49G>T
ENST00000691369.1:c.-342G>T	ENSP00000509754.1:n.-342G>T
ENST00000691441.1:c.-429G>T	ENSP00000509686.1:n.-429G>T
ENST00000691903.1:c.-244G>T	ENSP00000510314.1:n.-244G>T
ENST00000692776.1:c.-244G>T	ENSP00000508524.1:n.-244G>T
ENST00000369452.9:c.-244G>T MANE Select	ENSP00000358464.5:n.-244G>T
ENST00000369452.8:c.-244G>T	ENSP00000358464.4:n.-244G>T
ENST00000480155.1:n.56G>T
ENST00000489390.1:n.46G>T
NM_007373.3:c.-244G>T , LRG_753t1:c.-244G>T	NP_031399.2:n.-244G>T
XM_011540216.1:c.-390G>T	XP_011538518.1:n.-390G>T
NM_001269039.2:c.-244G>T	NP_001255968.1:n.-244G>T
NM_001324336.1:c.-235+207G>T	NP_001311265.1:n.-235+207G>T
NM_001324337.1:c.-429G>T	NP_001311266.1:n.-429G>T
NR_136749.1:n.106G>T
NM_007373.4:c.-244G>T MANE Select	NP_031399.2:n.-244G>T
NM_001269039.3:c.-244G>T	NP_001255968.1:n.-244G>T
NM_001324336.2:c.-235+207G>T	NP_001311265.1:n.-235+207G>T
NM_001324337.2:c.-429G>T	NP_001311266.1:n.-429G>T
NR_136749.2:n.45G>T