Canonical Allele Identifier: CA213914676

Gene: SHOC2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.111009729A>C , CM000672.2:g.111009729A>C	GRCh38
NC_000010.10:g.112769487A>C , CM000672.1:g.112769487A>C	GRCh37
NC_000010.9:g.112759477A>C	NCBI36
NG_028922.1:g.95187A>C , LRG_753:g.95187A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_007373.4:c.1439A>C MANE Select	NP_031399.2:p.Asn480Thr
ENST00000369452.9:c.1439A>C MANE Select	ENSP00000358464.5:p.Asn480Thr
NM_001269039.1:c.1301A>C	NP_001255968.1:p.Asn434Thr
NM_001269039.2:c.1301A>C	NP_001255968.1:p.Asn434Thr
NM_001269039.3:c.1301A>C	NP_001255968.1:p.Asn434Thr
NM_001324336.1:c.1439A>C	NP_001311265.1:p.Asn480Thr
NM_001324336.2:c.1439A>C	NP_001311265.1:p.Asn480Thr
NM_001324337.1:c.1439A>C	NP_001311266.1:p.Asn480Thr
NM_001324337.2:c.1439A>C	NP_001311266.1:p.Asn480Thr
NM_007373.3:c.1439A>C , LRG_753t1:c.1439A>C	NP_031399.2:p.Asn480Thr
NR_136749.1:n.851A>C
NR_136749.2:n.790A>C
ENST00000265277.10:c.1301A>C	ENSP00000265277.5:p.Asn434Thr
ENST00000265277.9:c.1301A>C	ENSP00000265277.5:p.Asn434Thr
ENST00000369452.8:c.1439A>C	ENSP00000358464.4:p.Asn480Thr
ENST00000451838.1:c.809A>C	ENSP00000408275.1:p.Asn270Thr
ENST00000451838.2:c.356A>C	ENSP00000408275.2:p.Asn119Thr
ENST00000489390.1:n.653A>C
ENST00000685059.1:c.1439A>C	ENSP00000510210.1:p.Asn480Thr
ENST00000685613.1:c.*435A>C	ENSP00000510564.1:n.*435A>C
ENST00000687592.1:n.2065A>C
ENST00000688928.1:c.1439A>C	ENSP00000509273.1:p.Asn480Thr
ENST00000689118.1:c.1439A>C	ENSP00000510554.1:p.Asn480Thr
ENST00000689300.1:c.1439A>C	ENSP00000510639.1:p.Asn480Thr
ENST00000689997.1:c.356A>C	ENSP00000510700.1:p.Asn119Thr
ENST00000691369.1:c.1439A>C	ENSP00000509754.1:p.Asn480Thr
ENST00000691441.1:c.1439A>C	ENSP00000509686.1:p.Asn480Thr
ENST00000691903.1:c.1422+344A>C	ENSP00000510314.1:n.1422+344A>C
ENST00000692776.1:c.1439A>C	ENSP00000508524.1:p.Asn480Thr
XM_011540216.1:c.356A>C	XP_011538518.1:p.Asn119Thr