Canonical Allele Identifier: CA2589101950

Gene: SHOC2

Linked Data

• dbSNP Id: rs2134183908
• gnomAD v3: 10-111012201-T-C
• gnomAD v4: 10-111012201-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.111012201T>C , CM000672.2:g.111012201T>C	GRCh38
NC_000010.10:g.112771959T>C , CM000672.1:g.112771959T>C	GRCh37
NC_000010.9:g.112761949T>C	NCBI36
NG_028922.1:g.97659T>C , LRG_753:g.97659T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265277.10:c.*383T>C	ENSP00000265277.5:n.*383T>C
ENST00000451838.2:c.*383T>C	ENSP00000408275.2:n.*383T>C
ENST00000685059.1:c.*383T>C	ENSP00000510210.1:n.*383T>C
ENST00000685613.1:c.*1128T>C	ENSP00000510564.1:n.*1128T>C
ENST00000688928.1:c.*383T>C	ENSP00000509273.1:n.*383T>C
ENST00000689118.1:c.*383T>C	ENSP00000510554.1:n.*383T>C
ENST00000689300.1:c.*383T>C	ENSP00000510639.1:n.*383T>C
ENST00000689997.1:c.*383T>C	ENSP00000510700.1:n.*383T>C
ENST00000691369.1:c.*383T>C	ENSP00000509754.1:n.*383T>C
ENST00000691441.1:c.*383T>C	ENSP00000509686.1:n.*383T>C
ENST00000691903.1:c.*574T>C	ENSP00000510314.1:n.*574T>C
ENST00000369452.9:c.*383T>C MANE Select	ENSP00000358464.5:n.*383T>C
ENST00000265277.9:c.*383T>C	ENSP00000265277.5:n.*383T>C
ENST00000369452.8:c.*383T>C	ENSP00000358464.4:n.*383T>C
ENST00000451838.1:c.1502T>C	ENSP00000408275.1:n.1502T>C
NM_001269039.1:c.*383T>C	NP_001255968.1:n.*383T>C
NM_007373.3:c.*383T>C , LRG_753t1:c.*383T>C	NP_031399.2:n.*383T>C
XM_011540216.1:c.*383T>C	XP_011538518.1:n.*383T>C
NM_001269039.2:c.*383T>C	NP_001255968.1:n.*383T>C
NM_001324336.1:c.*383T>C	NP_001311265.1:n.*383T>C
NM_001324337.1:c.*383T>C	NP_001311266.1:n.*383T>C
NR_136749.1:n.1544T>C
NM_007373.4:c.*383T>C MANE Select	NP_031399.2:n.*383T>C
NM_001269039.3:c.*383T>C	NP_001255968.1:n.*383T>C
NM_001324336.2:c.*383T>C	NP_001311265.1:n.*383T>C
NM_001324337.2:c.*383T>C	NP_001311266.1:n.*383T>C
NR_136749.2:n.1483T>C