Canonical Allele Identifier: CA5689779

Gene: SHOC2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.111009737T>C , CM000672.2:g.111009737T>C	GRCh38
NC_000010.10:g.112769495T>C , CM000672.1:g.112769495T>C	GRCh37
NC_000010.9:g.112759485T>C	NCBI36
NG_028922.1:g.95195T>C , LRG_753:g.95195T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_007373.4:c.1447T>C MANE Select	NP_031399.2:p.Leu483=
ENST00000369452.9:c.1447T>C MANE Select	ENSP00000358464.5:p.Leu483=
NM_001269039.1:c.1309T>C	NP_001255968.1:p.Leu437=
NM_001269039.2:c.1309T>C	NP_001255968.1:p.Leu437=
NM_001269039.3:c.1309T>C	NP_001255968.1:p.Leu437=
NM_001324336.1:c.1447T>C	NP_001311265.1:p.Leu483=
NM_001324336.2:c.1447T>C	NP_001311265.1:p.Leu483=
NM_001324337.1:c.1447T>C	NP_001311266.1:p.Leu483=
NM_001324337.2:c.1447T>C	NP_001311266.1:p.Leu483=
NM_007373.3:c.1447T>C , LRG_753t1:c.1447T>C	NP_031399.2:p.Leu483=
NR_136749.1:n.859T>C
NR_136749.2:n.798T>C
ENST00000265277.10:c.1309T>C	ENSP00000265277.5:p.Leu437=
ENST00000265277.9:c.1309T>C	ENSP00000265277.5:p.Leu437=
ENST00000369452.8:c.1447T>C	ENSP00000358464.4:p.Leu483=
ENST00000451838.1:c.817T>C	ENSP00000408275.1:p.Leu273=
ENST00000451838.2:c.364T>C	ENSP00000408275.2:p.Leu122=
ENST00000489390.1:n.661T>C
ENST00000685059.1:c.1447T>C	ENSP00000510210.1:p.Leu483=
ENST00000685613.1:c.*443T>C	ENSP00000510564.1:n.*443T>C
ENST00000687592.1:n.2073T>C
ENST00000688928.1:c.1447T>C	ENSP00000509273.1:p.Leu483=
ENST00000689118.1:c.1447T>C	ENSP00000510554.1:p.Leu483=
ENST00000689300.1:c.1447T>C	ENSP00000510639.1:p.Leu483=
ENST00000689997.1:c.364T>C	ENSP00000510700.1:p.Leu122=
ENST00000691369.1:c.1447T>C	ENSP00000509754.1:p.Leu483=
ENST00000691441.1:c.1447T>C	ENSP00000509686.1:p.Leu483=
ENST00000691903.1:c.1422+352T>C	ENSP00000510314.1:n.1422+352T>C
ENST00000692776.1:c.1447T>C	ENSP00000508524.1:p.Leu483=
XM_011540216.1:c.364T>C	XP_011538518.1:p.Leu122=