Canonical Allele Identifier: CA378385803

Gene: SHOC2

Linked Data

• ClinVar Variation Id: 546129
• ClinVar RCV Id: RCV000657957
• dbSNP Id: rs730881020
• MyVariant Identifiers: chr10:g.112724635G>T (hg19) ; chr10:g.110964877G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110964877G>T , CM000672.2:g.110964877G>T	GRCh38
NC_000010.10:g.112724635G>T , CM000672.1:g.112724635G>T	GRCh37
NC_000010.9:g.112714625G>T	NCBI36
NG_028922.1:g.50335G>T , LRG_753:g.50335G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265277.10:c.519G>T	ENSP00000265277.5:p.Met173Ile
ENST00000451838.2:c.-242-35538G>T	ENSP00000408275.2:n.-242-35538G>T
ENST00000480155.2:n.755G>T
ENST00000685059.1:c.519G>T	ENSP00000510210.1:p.Met173Ile
ENST00000685613.1:c.519G>T	ENSP00000510564.1:p.Met173Ile
ENST00000687592.1:n.818G>T
ENST00000688928.1:c.519G>T	ENSP00000509273.1:p.Met173Ile
ENST00000689118.1:c.519G>T	ENSP00000510554.1:p.Met173Ile
ENST00000689300.1:c.519G>T	ENSP00000510639.1:p.Met173Ile
ENST00000689997.1:c.-380-20751G>T	ENSP00000510700.1:n.-380-20751G>T
ENST00000691151.1:n.811G>T
ENST00000691369.1:c.519G>T	ENSP00000509754.1:p.Met173Ile
ENST00000691441.1:c.519G>T	ENSP00000509686.1:p.Met173Ile
ENST00000691903.1:c.519G>T	ENSP00000510314.1:p.Met173Ile
ENST00000692776.1:c.519G>T	ENSP00000508524.1:p.Met173Ile
ENST00000369452.9:c.519G>T MANE Select	ENSP00000358464.5:p.Met173Ile
ENST00000265277.9:c.519G>T	ENSP00000265277.5:p.Met173Ile
ENST00000369452.8:c.519G>T	ENSP00000358464.4:p.Met173Ile
ENST00000451838.1:c.27G>T	ENSP00000408275.1:p.Met9Ile
ENST00000489390.1:n.56-35538G>T
NM_001269039.1:c.519G>T	NP_001255968.1:p.Met173Ile
NM_007373.3:c.519G>T , LRG_753t1:c.519G>T	NP_031399.2:p.Met173Ile
XM_011540216.1:c.-380-20751G>T	XP_011538518.1:n.-380-20751G>T
NM_001269039.2:c.519G>T	NP_001255968.1:p.Met173Ile
NM_001324336.1:c.519G>T	NP_001311265.1:p.Met173Ile
NM_001324337.1:c.519G>T	NP_001311266.1:p.Met173Ile
NR_136749.1:n.116-20751G>T
NM_007373.4:c.519G>T MANE Select	NP_031399.2:p.Met173Ile
NM_001269039.3:c.519G>T	NP_001255968.1:p.Met173Ile
NM_001324336.2:c.519G>T	NP_001311265.1:p.Met173Ile
NM_001324337.2:c.519G>T	NP_001311266.1:p.Met173Ile
NR_136749.2:n.55-20751G>T