Canonical Allele Identifier: CA375248180

Gene: EXOSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130703052G>T , CM000671.2:g.130703052G>T	GRCh38
NC_000009.11:g.133578439G>T , CM000671.1:g.133578439G>T	GRCh37
NC_000009.10:g.132568260G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_014285.7:c.673-1G>T MANE Select	NP_055100.2:n.673-1G>T
ENST00000372358.10:c.673-1G>T MANE Select	ENSP00000361433.5:n.673-1G>T
NM_001282708.1:c.595-1G>T	NP_001269637.1:n.595-1G>T
NM_001282709.1:c.583-1G>T	NP_001269638.1:n.583-1G>T
NM_014285.6:c.673-1G>T	NP_055100.2:n.673-1G>T
NR_104230.1:n.1211-1G>T
ENST00000372351.7:c.583-1G>T	ENSP00000361426.3:n.583-1G>T
ENST00000372352.7:c.649-1G>T	ENSP00000361427.3:n.649-1G>T
ENST00000372358.9:c.673-1G>T	ENSP00000361433.5:n.673-1G>T
ENST00000430138.6:n.1237-1G>T
ENST00000430138.7:n.456-1G>T
ENST00000467138.1:n.1470-1G>T
ENST00000491115.6:n.530-1G>T
ENST00000491115.7:c.*201-1G>T	ENSP00000509903.1:n.*201-1G>T
ENST00000495699.2:c.581-1G>T
ENST00000495699.3:c.673-1G>T	ENSP00000418463.3:n.673-1G>T
ENST00000546165.5:c.595-1G>T	ENSP00000444917.1:n.595-1G>T
ENST00000546165.6:c.595-1G>T	ENSP00000444917.1:n.595-1G>T
ENST00000685137.1:c.*458-1G>T	ENSP00000510555.1:n.*458-1G>T
ENST00000685277.1:c.518-1G>T	ENSP00000508897.1:n.518-1G>T
ENST00000686102.1:n.1165-1G>T
ENST00000687051.1:c.595-25G>T	ENSP00000509862.1:n.595-25G>T
ENST00000687420.1:c.*1656-1G>T	ENSP00000510661.1:n.*1656-1G>T
ENST00000688258.1:c.*1172-1G>T	ENSP00000509176.1:n.*1172-1G>T
ENST00000688364.1:n.384-1G>T
ENST00000688967.1:c.*2190-1G>T	ENSP00000509217.1:n.*2190-1G>T
ENST00000689662.1:n.2669-1G>T
ENST00000689890.1:c.*726-1G>T	ENSP00000508702.1:n.*726-1G>T
ENST00000691104.1:n.3364-1G>T
ENST00000691284.1:c.673-1G>T	ENSP00000508620.1:n.673-1G>T
ENST00000691425.1:n.4966-1G>T
ENST00000691926.1:c.*1913G>T	ENSP00000510677.1:n.*1913G>T
ENST00000692794.1:c.*1199G>T	ENSP00000510147.1:n.*1199G>T
ENST00000693011.1:c.*1425-1G>T	ENSP00000508836.1:n.*1425-1G>T
ENST00000693435.1:c.*992-1G>T	ENSP00000509661.1:n.*992-1G>T
ENST00000693610.1:c.*3869G>T	ENSP00000509388.1:n.*3869G>T
XM_005272176.2:c.337-1G>T	XP_005272233.1:n.337-1G>T
XM_006717023.2:c.283-1G>T	XP_006717086.1:n.283-1G>T
XM_017014558.1:c.337-1G>T	XP_016870047.1:n.337-1G>T
XR_001746262.1:n.1652-1G>T