Canonical Allele Identifier: CA595725900

Gene: SHOC2

Linked Data

• dbSNP Id: rs1177569533
• gnomAD v2: 10-112724134-A-AAAAGAAAAAGACTCT
• gnomAD v3: 10-110964376-A-AAAAGAAAAAGACTCT
• gnomAD v4: 10-110964376-A-AAAAGAAAAAGACTCT
• MyVariant Identifiers: chr10:g.112724134_112724135insAAAGAAAAAGACTCT (hg19) ; chr10:g.110964376_110964377insAAAGAAAAAGACTCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110964388_110964402dup , CM000672.2:g.110964388_110964402dup	GRCh38
NC_000010.10:g.112724146_112724160dup , CM000672.1:g.112724146_112724160dup	GRCh37
NC_000010.9:g.112714136_112714150dup	NCBI36
NG_028922.1:g.49846_49860dup , LRG_753:g.49846_49860dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000265277.10:c.30_44dup	ENSP00000265277.5:p.Asp15_Pro16insSerLysG...
ENST00000451838.2:c.-242-36027_-242-36013dup	ENSP00000408275.2:n.-242-36027_-242-36013...
ENST00000480155.2:n.266_280dup
ENST00000685059.1:c.30_44dup	ENSP00000510210.1:p.Asp15_Pro16insSerLysG...
ENST00000685613.1:c.30_44dup	ENSP00000510564.1:p.Asp15_Pro16insSerLysG...
ENST00000687592.1:n.329_343dup
ENST00000688928.1:c.30_44dup	ENSP00000509273.1:p.Asp15_Pro16insSerLysG...
ENST00000689118.1:c.30_44dup	ENSP00000510554.1:p.Asp15_Pro16insSerLysG...
ENST00000689300.1:c.30_44dup	ENSP00000510639.1:p.Asp15_Pro16insSerLysG...
ENST00000689997.1:c.-380-21240_-380-21226dup	ENSP00000510700.1:n.-380-21240_-380-21226...
ENST00000691151.1:n.322_336dup
ENST00000691369.1:c.30_44dup	ENSP00000509754.1:p.Asp15_Pro16insSerLysG...
ENST00000691441.1:c.30_44dup	ENSP00000509686.1:p.Asp15_Pro16insSerLysG...
ENST00000691903.1:c.30_44dup	ENSP00000510314.1:p.Asp15_Pro16insSerLysG...
ENST00000692776.1:c.30_44dup	ENSP00000508524.1:p.Asp15_Pro16insSerLysG...
ENST00000369452.9:c.30_44dup MANE Select	ENSP00000358464.5:p.Asp15_Pro16insSerLysG...
ENST00000265277.9:c.30_44dup	ENSP00000265277.5:p.Asp15_Pro16insSerLysG...
ENST00000369452.8:c.30_44dup	ENSP00000358464.4:p.Asp15_Pro16insSerLysG...
ENST00000480155.1:n.514_528dup
ENST00000489390.1:n.56-36027_56-36013dup
ENST00000489783.1:n.408_422dup
NM_001269039.1:c.30_44dup	NP_001255968.1:p.Asp15_Pro16insSerLysGluL...
NM_007373.3:c.30_44dup , LRG_753t1:c.30_44dup	NP_031399.2:p.Asp15_Pro16insSerLysGluLysA...
XM_011540216.1:c.-380-21240_-380-21226dup	XP_011538518.1:n.-380-21240_-380-21226dup...
NM_001269039.2:c.30_44dup	NP_001255968.1:p.Asp15_Pro16insSerLysGluL...
NM_001324336.1:c.30_44dup	NP_001311265.1:p.Asp15_Pro16insSerLysGluL...
NM_001324337.1:c.30_44dup	NP_001311266.1:p.Asp15_Pro16insSerLysGluL...
NR_136749.1:n.116-21240_116-21226dup
NM_007373.4:c.30_44dup MANE Select	NP_031399.2:p.Asp15_Pro16insSerLysGluLysA...
NM_001269039.3:c.30_44dup	NP_001255968.1:p.Asp15_Pro16insSerLysGluL...
NM_001324336.2:c.30_44dup	NP_001311265.1:p.Asp15_Pro16insSerLysGluL...
NM_001324337.2:c.30_44dup	NP_001311266.1:p.Asp15_Pro16insSerLysGluL...
NR_136749.2:n.55-21240_55-21226dup