Canonical Allele Identifier: CA2580079800

Gene: EXOSC2

Linked Data

• ClinVar Variation Id: 2013423
• ClinVar RCV Id: RCV002834659

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130693814del , CM000671.2:g.130693814del	GRCh38
NC_000009.11:g.133569201del , CM000671.1:g.133569201del	GRCh37
NC_000009.10:g.132559022del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491115.7:c.23del	ENSP00000509903.1:p.Pro8GlnfsTer19
ENST00000495699.3:c.23del	ENSP00000418463.3:p.Pro8GlnfsTer19
ENST00000546165.6:c.23del	ENSP00000444917.1:p.Pro8GlnfsTer19
ENST00000685137.1:c.23del	ENSP00000510555.1:p.Pro8GlnfsTer19
ENST00000685277.1:c.23del	ENSP00000508897.1:p.Pro8GlnfsTer19
ENST00000686102.1:n.59del
ENST00000686106.1:n.34del
ENST00000687051.1:c.23del	ENSP00000509862.1:p.Pro8GlnfsTer19
ENST00000687420.1:c.23del	ENSP00000510661.1:p.Pro8GlnfsTer19
ENST00000688258.1:c.23del	ENSP00000509176.1:p.Pro8GlnfsTer19
ENST00000688350.1:n.34del
ENST00000688967.1:c.23del	ENSP00000509217.1:p.Pro8GlnfsTer19
ENST00000689890.1:c.23del	ENSP00000508702.1:p.Pro8GlnfsTer19
ENST00000691104.1:n.44del
ENST00000691162.1:n.35del
ENST00000691284.1:c.23del	ENSP00000508620.1:p.Pro8GlnfsTer19
ENST00000691425.1:n.35del
ENST00000691926.1:c.23del	ENSP00000510677.1:p.Pro8GlnfsTer19
ENST00000692554.1:n.35del
ENST00000692794.1:c.23del	ENSP00000510147.1:p.Pro8GlnfsTer19
ENST00000693011.1:c.23del	ENSP00000508836.1:p.Pro8GlnfsTer19
ENST00000693435.1:c.23del	ENSP00000509661.1:p.Pro8GlnfsTer19
ENST00000693610.1:c.23del	ENSP00000509388.1:p.Pro8GlnfsTer19
ENST00000372358.10:c.23del MANE Select	ENSP00000361433.5:p.Pro8GlnfsTer19
ENST00000372350.7:c.23del	ENSP00000361425.2:p.Pro8GlnfsTer19
ENST00000372351.7:c.23del	ENSP00000361426.3:p.Pro8GlnfsTer19
ENST00000372352.7:c.23del	ENSP00000361427.3:p.Pro8GlnfsTer19
ENST00000372358.9:c.23del	ENSP00000361433.5:p.Pro8GlnfsTer19
ENST00000430138.6:n.40del
ENST00000463488.1:n.9del
ENST00000490641.5:n.35del
ENST00000491115.6:n.94del
ENST00000495699.2:c.9del
ENST00000546165.5:c.23del	ENSP00000444917.1:p.Pro8GlnfsTer19
NM_001282708.1:c.23del	NP_001269637.1:p.Pro8GlnfsTer19
NM_001282709.1:c.23del	NP_001269638.1:p.Pro8GlnfsTer19
NM_014285.6:c.23del	NP_055100.2:p.Pro8GlnfsTer19
NR_104230.1:n.55del
XM_005272176.2:c.-327del	XP_005272233.1:n.-327del
XM_006717022.1:c.23del	XP_006717085.1:p.Pro8GlnfsTer19
XM_006717023.2:c.-291del	XP_006717086.1:n.-291del
XM_006717024.2:c.23del	XP_006717087.1:p.Pro8GlnfsTer19
XM_017014558.1:c.-861del	XP_016870047.1:n.-861del
XR_001746262.1:n.35del
NM_014285.7:c.23del MANE Select	NP_055100.2:p.Pro8GlnfsTer19