Canonical Allele Identifier: CA213256743

Gene: SHOC2

Linked Data

• dbSNP Id: rs929676640
• gnomAD v3: 10-110964146-T-G
• gnomAD v4: 10-110964146-T-G
• MyVariant Identifiers: chr10:g.112723904T>G (hg19) ; chr10:g.110964146T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110964146T>G , CM000672.2:g.110964146T>G	GRCh38
NC_000010.10:g.112723904T>G , CM000672.1:g.112723904T>G	GRCh37
NC_000010.9:g.112713894T>G	NCBI36
NG_028922.1:g.49604T>G , LRG_753:g.49604T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265277.10:c.-213T>G	ENSP00000265277.5:n.-213T>G
ENST00000451838.2:c.-242-36269T>G	ENSP00000408275.2:n.-242-36269T>G
ENST00000480155.2:n.24T>G
ENST00000685059.1:c.-213T>G	ENSP00000510210.1:n.-213T>G
ENST00000685613.1:c.-213T>G	ENSP00000510564.1:n.-213T>G
ENST00000687592.1:n.87T>G
ENST00000688928.1:c.-213T>G	ENSP00000509273.1:n.-213T>G
ENST00000689118.1:c.-213T>G	ENSP00000510554.1:n.-213T>G
ENST00000689300.1:c.-213T>G	ENSP00000510639.1:n.-213T>G
ENST00000689997.1:c.-380-21482T>G	ENSP00000510700.1:n.-380-21482T>G
ENST00000691151.1:n.80T>G
ENST00000691369.1:c.-213T>G	ENSP00000509754.1:n.-213T>G
ENST00000691441.1:c.-213T>G	ENSP00000509686.1:n.-213T>G
ENST00000691903.1:c.-213T>G	ENSP00000510314.1:n.-213T>G
ENST00000692776.1:c.-213T>G	ENSP00000508524.1:n.-213T>G
ENST00000369452.9:c.-213T>G MANE Select	ENSP00000358464.5:n.-213T>G
ENST00000265277.9:c.-213T>G	ENSP00000265277.5:n.-213T>G
ENST00000369452.8:c.-213T>G	ENSP00000358464.4:n.-213T>G
ENST00000480155.1:n.272T>G
ENST00000489390.1:n.56-36269T>G
ENST00000489783.1:n.166T>G
NM_001269039.1:c.-213T>G	NP_001255968.1:n.-213T>G
NM_007373.3:c.-213T>G , LRG_753t1:c.-213T>G	NP_031399.2:n.-213T>G
XM_011540216.1:c.-380-21482T>G	XP_011538518.1:n.-380-21482T>G
NM_001269039.2:c.-213T>G	NP_001255968.1:n.-213T>G
NM_001324336.1:c.-213T>G	NP_001311265.1:n.-213T>G
NM_001324337.1:c.-213T>G	NP_001311266.1:n.-213T>G
NR_136749.1:n.116-21482T>G
NM_007373.4:c.-213T>G MANE Select	NP_031399.2:n.-213T>G
NM_001269039.3:c.-213T>G	NP_001255968.1:n.-213T>G
NM_001324336.2:c.-213T>G	NP_001311265.1:n.-213T>G
NM_001324337.2:c.-213T>G	NP_001311266.1:n.-213T>G
NR_136749.2:n.55-21482T>G