Canonical Allele Identifier: CA374122652

Gene: ERCC6L2

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95916250G>C , CM000671.2:g.95916250G>C	GRCh38
NC_000009.11:g.98678532G>C , CM000671.1:g.98678532G>C	GRCh37
NC_000009.10:g.97718353G>C	NCBI36
NG_034107.1:g.45633G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_020207.7:c.974G>C MANE Select	NP_064592.3:p.Ser325Thr
ENST00000653738.2:c.974G>C MANE Select	ENSP00000499221.2:p.Ser325Thr
NM_001010895.2:c.1007G>C	NP_001010895.1:p.Ser336Thr
NM_001010895.4:c.974G>C	NP_001010895.2:p.Ser325Thr
NM_001375291.1:c.974G>C	NP_001362220.1:p.Ser325Thr
NM_001375292.1:c.974G>C	NP_001362221.1:p.Ser325Thr
NM_001375293.1:c.974G>C	NP_001362222.1:p.Ser325Thr
NM_001375294.1:c.974G>C	NP_001362223.1:p.Ser325Thr
NM_020207.4:c.1007G>C	NP_064592.2:p.Ser336Thr
NR_164677.1:n.1322G>C
ENST00000288985.11:c.1007G>C	ENSP00000288985.7:p.Ser336Thr
ENST00000288985.12:c.974G>C	ENSP00000288985.8:p.Ser325Thr
ENST00000288985.13:c.974G>C	ENSP00000288985.8:p.Ser325Thr
ENST00000402838.3:c.440G>C	ENSP00000384215.3:p.Ser147Thr
ENST00000426805.2:c.1007G>C	ENSP00000395345.2:p.Ser336Thr
ENST00000456993.5:c.53G>C	ENSP00000409751.1:p.Ser18Thr
ENST00000456993.6:c.*156G>C	ENSP00000409751.2:n.*156G>C
ENST00000456993.7:c.*156G>C	ENSP00000409751.2:n.*156G>C
ENST00000466840.5:n.2014G>C
ENST00000479391.7:c.186G>C
ENST00000653324.1:c.974G>C	ENSP00000499453.1:p.Ser325Thr
ENST00000653324.2:c.974G>C	ENSP00000499453.1:p.Ser325Thr
ENST00000659728.1:c.974G>C	ENSP00000499575.1:p.Ser325Thr
ENST00000661047.1:c.974G>C	ENSP00000499236.1:p.Ser325Thr
ENST00000670016.1:c.974G>C	ENSP00000499338.1:p.Ser325Thr
ENST00000682394.1:n.1329G>C
ENST00000682748.1:c.*156G>C	ENSP00000507452.1:n.*156G>C
ENST00000682983.1:c.974G>C	ENSP00000507518.1:p.Ser325Thr
ENST00000683128.1:c.974G>C	ENSP00000508232.1:p.Ser325Thr
ENST00000683156.1:n.1322G>C
ENST00000683176.1:n.1311G>C
ENST00000683227.1:n.1311G>C
ENST00000683350.1:c.974G>C	ENSP00000507810.1:p.Ser325Thr
ENST00000683937.1:c.929G>C	ENSP00000507442.1:p.Ser310Thr
ENST00000683991.1:c.974G>C	ENSP00000507383.1:p.Ser325Thr
XM_011518641.1:c.1007G>C	XP_011516943.1:p.Ser336Thr
XM_011518641.3:c.1007G>C	XP_011516943.1:p.Ser336Thr
XM_011518642.1:c.380G>C	XP_011516944.1:p.Ser127Thr
XM_011518643.1:c.1007G>C	XP_011516945.1:p.Ser336Thr
XM_011518644.1:c.113G>C	XP_011516946.1:p.Ser38Thr
XM_011518644.3:c.113G>C	XP_011516946.1:p.Ser38Thr
XM_011518645.1:c.1007G>C	XP_011516947.1:p.Ser336Thr
XM_011518645.3:c.1007G>C	XP_011516947.1:p.Ser336Thr
XM_011518646.1:c.1007G>C	XP_011516948.1:p.Ser336Thr
XM_011518646.3:c.1007G>C	XP_011516948.1:p.Ser336Thr
XM_011518647.1:c.1007G>C	XP_011516949.1:p.Ser336Thr
XM_011518647.2:c.1007G>C	XP_011516949.1:p.Ser336Thr
XM_011518650.3:c.-1321G>C	XP_011516952.1:n.-1321G>C
XM_011518651.1:c.1007G>C	XP_011516953.1:p.Ser336Thr
XM_017014707.2:c.-1142G>C	XP_016870196.1:n.-1142G>C
XR_001746290.2:n.1060G>C
XR_001746291.2:n.1381G>C
XR_929787.1:n.1395G>C
XR_929788.1:n.1395G>C
XR_929789.1:n.1395G>C
XR_929789.2:n.1350G>C