Canonical Allele Identifier: CA375248035

Gene: EXOSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130702249G>A , CM000671.2:g.130702249G>A	GRCh38
NC_000009.11:g.133577636G>A , CM000671.1:g.133577636G>A	GRCh37
NC_000009.10:g.132567457G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_014285.7:c.611G>A MANE Select	NP_055100.2:p.Trp204Ter
ENST00000372358.10:c.611G>A MANE Select	ENSP00000361433.5:p.Trp204Ter
NM_001282708.1:c.533G>A	NP_001269637.1:p.Trp178Ter
NM_001282709.1:c.521G>A	NP_001269638.1:p.Trp174Ter
NM_014285.6:c.611G>A	NP_055100.2:p.Trp204Ter
NR_104230.1:n.1149G>A
ENST00000372350.7:c.557G>A	ENSP00000361425.2:p.Trp186Ter
ENST00000372351.7:c.521G>A	ENSP00000361426.3:p.Trp174Ter
ENST00000372352.7:c.587G>A	ENSP00000361427.3:p.Trp196Ter
ENST00000372358.9:c.611G>A	ENSP00000361433.5:p.Trp204Ter
ENST00000430138.6:n.1175G>A
ENST00000430138.7:n.394G>A
ENST00000467138.1:n.1408G>A
ENST00000491115.6:n.468G>A
ENST00000491115.7:c.*139G>A	ENSP00000509903.1:n.*139G>A
ENST00000495699.2:c.519G>A
ENST00000495699.3:c.611G>A	ENSP00000418463.3:p.Trp204Ter
ENST00000546165.5:c.533G>A	ENSP00000444917.1:p.Trp178Ter
ENST00000546165.6:c.533G>A	ENSP00000444917.1:p.Trp178Ter
ENST00000685137.1:c.*396G>A	ENSP00000510555.1:n.*396G>A
ENST00000685277.1:c.456G>A	ENSP00000508897.1:n.456G>A
ENST00000686102.1:n.1103G>A
ENST00000687051.1:c.533G>A	ENSP00000509862.1:p.Trp178Ter
ENST00000687420.1:c.*1594G>A	ENSP00000510661.1:n.*1594G>A
ENST00000688258.1:c.*1110G>A	ENSP00000509176.1:n.*1110G>A
ENST00000688364.1:n.322G>A
ENST00000688967.1:c.*2128G>A	ENSP00000509217.1:n.*2128G>A
ENST00000689662.1:n.2607G>A
ENST00000689890.1:c.*664G>A	ENSP00000508702.1:n.*664G>A
ENST00000691104.1:n.3302G>A
ENST00000691284.1:c.611G>A	ENSP00000508620.1:p.Trp204Ter
ENST00000691425.1:n.4904G>A
ENST00000691926.1:c.*1110G>A	ENSP00000510677.1:n.*1110G>A
ENST00000692794.1:c.*396G>A	ENSP00000510147.1:n.*396G>A
ENST00000693011.1:c.*1363G>A	ENSP00000508836.1:n.*1363G>A
ENST00000693435.1:c.*930G>A	ENSP00000509661.1:n.*930G>A
ENST00000693610.1:c.*3066G>A	ENSP00000509388.1:n.*3066G>A
XM_005272176.2:c.275G>A	XP_005272233.1:p.Trp92Ter
XM_006717023.2:c.221G>A	XP_006717086.1:p.Trp74Ter
XM_017014558.1:c.275G>A	XP_016870047.1:p.Trp92Ter
XR_001746262.1:n.1590G>A