Canonical Allele Identifier: CA932534390

Gene: SHOC2

Linked Data

• dbSNP Id: rs1847622752
• gnomAD v3: 10-110964023-T-TAAAAA
• gnomAD v4: 10-110964023-T-TAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110964023_110964024insAAAAA , CM000672.2:g.110964023_110964024insAAAAA	GRCh38
NC_000010.10:g.112723781_112723782insAAAAA , CM000672.1:g.112723781_112723782insAAAAA	GRCh37
NC_000010.9:g.112713771_112713772insAAAAA	NCBI36
NG_028922.1:g.49481_49482insAAAAA , LRG_753:g.49481_49482insAAAAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000265277.10:c.-234-102_-234-101insAAAAA	ENSP00000265277.5:n.-234-102_-234-101insAAAAA
ENST00000451838.2:c.-242-36392_-242-36391insAAAAA	ENSP00000408275.2:n.-242-36392_-242-36391insAAAAA
ENST00000480155.2:n.3-102_3-101insAAAAA
ENST00000685059.1:c.-234-102_-234-101insAAAAA	ENSP00000510210.1:n.-234-102_-234-101insAAAAA
ENST00000685613.1:c.-234-102_-234-101insAAAAA	ENSP00000510564.1:n.-234-102_-234-101insAAAAA
ENST00000687592.1:n.66-102_66-101insAAAAA
ENST00000688928.1:c.-234-102_-234-101insAAAAA	ENSP00000509273.1:n.-234-102_-234-101insAAAAA
ENST00000689118.1:c.-234-102_-234-101insAAAAA	ENSP00000510554.1:n.-234-102_-234-101insAAAAA
ENST00000689300.1:c.-234-102_-234-101insAAAAA	ENSP00000510639.1:n.-234-102_-234-101insAAAAA
ENST00000689997.1:c.-380-21605_-380-21604insAAAAA	ENSP00000510700.1:n.-380-21605_-380-21604insAAAAA
ENST00000691151.1:n.59-102_59-101insAAAAA
ENST00000691369.1:c.-234-102_-234-101insAAAAA	ENSP00000509754.1:n.-234-102_-234-101insAAAAA
ENST00000691441.1:c.-234-102_-234-101insAAAAA	ENSP00000509686.1:n.-234-102_-234-101insAAAAA
ENST00000691903.1:c.-234-102_-234-101insAAAAA	ENSP00000510314.1:n.-234-102_-234-101insAAAAA
ENST00000692776.1:c.-234-102_-234-101insAAAAA	ENSP00000508524.1:n.-234-102_-234-101insAAAAA
ENST00000369452.9:c.-234-102_-234-101insAAAAA MANE Select	ENSP00000358464.5:n.-234-102_-234-101insAAAAA
ENST00000369452.8:c.-234-102_-234-101insAAAAA	ENSP00000358464.4:n.-234-102_-234-101insAAAAA
ENST00000480155.1:n.251-102_251-101insAAAAA
ENST00000489390.1:n.56-36392_56-36391insAAAAA
ENST00000489783.1:n.145-102_145-101insAAAAA
NM_007373.3:c.-234-102_-234-101insAAAAA , LRG_753t1:c.-234-102_-234-101insAAAAA	NP_031399.2:n.-234-102_-234-101insAAAAA
XM_011540216.1:c.-380-21605_-380-21604insAAAAA	XP_011538518.1:n.-380-21605_-380-21604insAAAAA
NM_001269039.2:c.-234-102_-234-101insAAAAA	NP_001255968.1:n.-234-102_-234-101insAAAAA
NM_001324336.1:c.-234-102_-234-101insAAAAA	NP_001311265.1:n.-234-102_-234-101insAAAAA
NM_001324337.1:c.-234-102_-234-101insAAAAA	NP_001311266.1:n.-234-102_-234-101insAAAAA
NR_136749.1:n.116-21605_116-21604insAAAAA
NM_007373.4:c.-234-102_-234-101insAAAAA MANE Select	NP_031399.2:n.-234-102_-234-101insAAAAA
NM_001269039.3:c.-234-102_-234-101insAAAAA	NP_001255968.1:n.-234-102_-234-101insAAAAA
NM_001324336.2:c.-234-102_-234-101insAAAAA	NP_001311265.1:n.-234-102_-234-101insAAAAA
NM_001324337.2:c.-234-102_-234-101insAAAAA	NP_001311266.1:n.-234-102_-234-101insAAAAA
NR_136749.2:n.55-21605_55-21604insAAAAA