Canonical Allele Identifier: CA375248038

Gene: EXOSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130702250G>A , CM000671.2:g.130702250G>A	GRCh38
NC_000009.11:g.133577637G>A , CM000671.1:g.133577637G>A	GRCh37
NC_000009.10:g.132567458G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_014285.7:c.612G>A MANE Select	NP_055100.2:p.Trp204Ter
ENST00000372358.10:c.612G>A MANE Select	ENSP00000361433.5:p.Trp204Ter
NM_001282708.1:c.534G>A	NP_001269637.1:p.Trp178Ter
NM_001282709.1:c.522G>A	NP_001269638.1:p.Trp174Ter
NM_014285.6:c.612G>A	NP_055100.2:p.Trp204Ter
NR_104230.1:n.1150G>A
ENST00000372350.7:c.558G>A	ENSP00000361425.2:p.Trp186Ter
ENST00000372351.7:c.522G>A	ENSP00000361426.3:p.Trp174Ter
ENST00000372352.7:c.588G>A	ENSP00000361427.3:p.Trp196Ter
ENST00000372358.9:c.612G>A	ENSP00000361433.5:p.Trp204Ter
ENST00000430138.6:n.1176G>A
ENST00000430138.7:n.395G>A
ENST00000467138.1:n.1409G>A
ENST00000491115.6:n.469G>A
ENST00000491115.7:c.*140G>A	ENSP00000509903.1:n.*140G>A
ENST00000495699.2:c.520G>A
ENST00000495699.3:c.612G>A	ENSP00000418463.3:p.Trp204Ter
ENST00000546165.5:c.534G>A	ENSP00000444917.1:p.Trp178Ter
ENST00000546165.6:c.534G>A	ENSP00000444917.1:p.Trp178Ter
ENST00000685137.1:c.*397G>A	ENSP00000510555.1:n.*397G>A
ENST00000685277.1:c.457G>A	ENSP00000508897.1:n.457G>A
ENST00000686102.1:n.1104G>A
ENST00000687051.1:c.534G>A	ENSP00000509862.1:p.Trp178Ter
ENST00000687420.1:c.*1595G>A	ENSP00000510661.1:n.*1595G>A
ENST00000688258.1:c.*1111G>A	ENSP00000509176.1:n.*1111G>A
ENST00000688364.1:n.323G>A
ENST00000688967.1:c.*2129G>A	ENSP00000509217.1:n.*2129G>A
ENST00000689662.1:n.2608G>A
ENST00000689890.1:c.*665G>A	ENSP00000508702.1:n.*665G>A
ENST00000691104.1:n.3303G>A
ENST00000691284.1:c.612G>A	ENSP00000508620.1:p.Trp204Ter
ENST00000691425.1:n.4905G>A
ENST00000691926.1:c.*1111G>A	ENSP00000510677.1:n.*1111G>A
ENST00000692794.1:c.*397G>A	ENSP00000510147.1:n.*397G>A
ENST00000693011.1:c.*1364G>A	ENSP00000508836.1:n.*1364G>A
ENST00000693435.1:c.*931G>A	ENSP00000509661.1:n.*931G>A
ENST00000693610.1:c.*3067G>A	ENSP00000509388.1:n.*3067G>A
XM_005272176.2:c.276G>A	XP_005272233.1:p.Trp92Ter
XM_006717023.2:c.222G>A	XP_006717086.1:p.Trp74Ter
XM_017014558.1:c.276G>A	XP_016870047.1:p.Trp92Ter
XR_001746262.1:n.1591G>A