Canonical Allele Identifier: CA10628063

Gene: SHOC2

Linked Data

• ClinVar Variation Id: 298873
• ClinVar RCV Id: RCV000353925
• dbSNP Id: rs114628508
• gnomAD v2: 10-112772349-G-A
• gnomAD v3: 10-111012591-G-A
• gnomAD v4: 10-111012591-G-A
• MyVariant Identifiers: chr10:g.112772349G>A (hg19) ; chr10:g.111012591G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.111012591G>A , CM000672.2:g.111012591G>A	GRCh38
NC_000010.10:g.112772349G>A , CM000672.1:g.112772349G>A	GRCh37
NC_000010.9:g.112762339G>A	NCBI36
NG_028922.1:g.98049G>A , LRG_753:g.98049G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265277.10:c.*773G>A	ENSP00000265277.5:n.*773G>A
ENST00000451838.2:c.*773G>A	ENSP00000408275.2:n.*773G>A
ENST00000685059.1:c.*773G>A	ENSP00000510210.1:n.*773G>A
ENST00000685613.1:c.*1518G>A	ENSP00000510564.1:n.*1518G>A
ENST00000688928.1:c.*773G>A	ENSP00000509273.1:n.*773G>A
ENST00000689118.1:c.*773G>A	ENSP00000510554.1:n.*773G>A
ENST00000689300.1:c.*773G>A	ENSP00000510639.1:n.*773G>A
ENST00000689997.1:c.*773G>A	ENSP00000510700.1:n.*773G>A
ENST00000691369.1:c.*773G>A	ENSP00000509754.1:n.*773G>A
ENST00000691441.1:c.*773G>A	ENSP00000509686.1:n.*773G>A
ENST00000691903.1:c.*964G>A	ENSP00000510314.1:n.*964G>A
ENST00000369452.9:c.*773G>A MANE Select	ENSP00000358464.5:n.*773G>A
ENST00000265277.9:c.*773G>A	ENSP00000265277.5:n.*773G>A
ENST00000369452.8:c.*773G>A	ENSP00000358464.4:n.*773G>A
ENST00000451838.1:c.1892G>A	ENSP00000408275.1:n.1892G>A
NM_001269039.1:c.*773G>A	NP_001255968.1:n.*773G>A
NM_007373.3:c.*773G>A , LRG_753t1:c.*773G>A	NP_031399.2:n.*773G>A
XM_011540216.1:c.*773G>A	XP_011538518.1:n.*773G>A
NM_001269039.2:c.*773G>A	NP_001255968.1:n.*773G>A
NM_001324336.1:c.*773G>A	NP_001311265.1:n.*773G>A
NM_001324337.1:c.*773G>A	NP_001311266.1:n.*773G>A
NR_136749.1:n.1934G>A
NM_007373.4:c.*773G>A MANE Select	NP_031399.2:n.*773G>A
NM_001269039.3:c.*773G>A	NP_001255968.1:n.*773G>A
NM_001324336.2:c.*773G>A	NP_001311265.1:n.*773G>A
NM_001324337.2:c.*773G>A	NP_001311266.1:n.*773G>A
NR_136749.2:n.1873G>A