Canonical Allele Identifier: CA5284979

Gene: EXOSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130703182G>A , CM000671.2:g.130703182G>A	GRCh38
NC_000009.11:g.133578569G>A , CM000671.1:g.133578569G>A	GRCh37
NC_000009.10:g.132568390G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_014285.7:c.801+1G>A MANE Select	NP_055100.2:n.801+1G>A
ENST00000372358.10:c.801+1G>A MANE Select	ENSP00000361433.5:n.801+1G>A
NM_001282708.1:c.723+1G>A	NP_001269637.1:n.723+1G>A
NM_001282709.1:c.711+1G>A	NP_001269638.1:n.711+1G>A
NM_014285.6:c.801+1G>A	NP_055100.2:n.801+1G>A
NR_104230.1:n.1339+1G>A
ENST00000372351.7:c.711+1G>A	ENSP00000361426.3:n.711+1G>A
ENST00000372352.7:c.777+1G>A	ENSP00000361427.3:n.777+1G>A
ENST00000372358.9:c.801+1G>A	ENSP00000361433.5:n.801+1G>A
ENST00000430138.6:n.1365+1G>A
ENST00000430138.7:n.584+1G>A
ENST00000467138.1:n.1598+1G>A
ENST00000491115.6:n.658+1G>A
ENST00000491115.7:c.*329+1G>A	ENSP00000509903.1:n.*329+1G>A
ENST00000495699.3:c.802G>A	ENSP00000418463.3:p.Val268Ile
ENST00000546165.5:c.723+1G>A	ENSP00000444917.1:n.723+1G>A
ENST00000546165.6:c.723+1G>A	ENSP00000444917.1:n.723+1G>A
ENST00000685137.1:c.*586+1G>A	ENSP00000510555.1:n.*586+1G>A
ENST00000685277.1:c.646+1G>A	ENSP00000508897.1:n.646+1G>A
ENST00000686102.1:n.1293+1G>A
ENST00000687051.1:c.699+1G>A	ENSP00000509862.1:n.699+1G>A
ENST00000687420.1:c.*1784+1G>A	ENSP00000510661.1:n.*1784+1G>A
ENST00000688258.1:c.*1300+1G>A	ENSP00000509176.1:n.*1300+1G>A
ENST00000688364.1:n.512+1G>A
ENST00000688967.1:c.*2318+1G>A	ENSP00000509217.1:n.*2318+1G>A
ENST00000689662.1:n.2797+1G>A
ENST00000689890.1:c.*854+1G>A	ENSP00000508702.1:n.*854+1G>A
ENST00000691104.1:n.3492+1G>A
ENST00000691284.1:c.801+1G>A	ENSP00000508620.1:n.801+1G>A
ENST00000691425.1:n.5094+1G>A
ENST00000691926.1:c.*2042+1G>A	ENSP00000510677.1:n.*2042+1G>A
ENST00000692794.1:c.*1328+1G>A	ENSP00000510147.1:n.*1328+1G>A
ENST00000693011.1:c.*1553+1G>A	ENSP00000508836.1:n.*1553+1G>A
ENST00000693435.1:c.*1120+1G>A	ENSP00000509661.1:n.*1120+1G>A
ENST00000693610.1:c.*3998+1G>A	ENSP00000509388.1:n.*3998+1G>A
XM_005272176.2:c.465+1G>A	XP_005272233.1:n.465+1G>A
XM_006717023.2:c.411+1G>A	XP_006717086.1:n.411+1G>A
XM_017014558.1:c.465+1G>A	XP_016870047.1:n.465+1G>A
XR_001746262.1:n.1780+1G>A