Canonical Allele Identifier: CA378382457

Gene: SHOC2

Linked Data

• MyVariant Identifiers: chr10:g.112724318G>T (hg19) ; chr10:g.110964560G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110964560G>T , CM000672.2:g.110964560G>T	GRCh38
NC_000010.10:g.112724318G>T , CM000672.1:g.112724318G>T	GRCh37
NC_000010.9:g.112714308G>T	NCBI36
NG_028922.1:g.50018G>T , LRG_753:g.50018G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265277.10:c.202G>T	ENSP00000265277.5:p.Val68Phe
ENST00000451838.2:c.-242-35855G>T	ENSP00000408275.2:n.-242-35855G>T
ENST00000480155.2:n.438G>T
ENST00000685059.1:c.202G>T	ENSP00000510210.1:p.Val68Phe
ENST00000685613.1:c.202G>T	ENSP00000510564.1:p.Val68Phe
ENST00000687592.1:n.501G>T
ENST00000688928.1:c.202G>T	ENSP00000509273.1:p.Val68Phe
ENST00000689118.1:c.202G>T	ENSP00000510554.1:p.Val68Phe
ENST00000689300.1:c.202G>T	ENSP00000510639.1:p.Val68Phe
ENST00000689997.1:c.-380-21068G>T	ENSP00000510700.1:n.-380-21068G>T
ENST00000691151.1:n.494G>T
ENST00000691369.1:c.202G>T	ENSP00000509754.1:p.Val68Phe
ENST00000691441.1:c.202G>T	ENSP00000509686.1:p.Val68Phe
ENST00000691903.1:c.202G>T	ENSP00000510314.1:p.Val68Phe
ENST00000692776.1:c.202G>T	ENSP00000508524.1:p.Val68Phe
ENST00000369452.9:c.202G>T MANE Select	ENSP00000358464.5:p.Val68Phe
ENST00000265277.9:c.202G>T	ENSP00000265277.5:p.Val68Phe
ENST00000369452.8:c.202G>T	ENSP00000358464.4:p.Val68Phe
ENST00000489390.1:n.56-35855G>T
ENST00000489783.1:n.580G>T
NM_001269039.1:c.202G>T	NP_001255968.1:p.Val68Phe
NM_007373.3:c.202G>T , LRG_753t1:c.202G>T	NP_031399.2:p.Val68Phe
XM_011540216.1:c.-380-21068G>T	XP_011538518.1:n.-380-21068G>T
NM_001269039.2:c.202G>T	NP_001255968.1:p.Val68Phe
NM_001324336.1:c.202G>T	NP_001311265.1:p.Val68Phe
NM_001324337.1:c.202G>T	NP_001311266.1:p.Val68Phe
NR_136749.1:n.116-21068G>T
NM_007373.4:c.202G>T MANE Select	NP_031399.2:p.Val68Phe
NM_001269039.3:c.202G>T	NP_001255968.1:p.Val68Phe
NM_001324336.2:c.202G>T	NP_001311265.1:p.Val68Phe
NM_001324337.2:c.202G>T	NP_001311266.1:p.Val68Phe
NR_136749.2:n.55-21068G>T