Canonical Allele Identifier: CA2338391655

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45357214_45357240delinsGCGGCCCCTTGCCCCCATCTCCCCTCC , CM000681.2:g.45357214_45357240delinsGCGGCCCCTTGCCCCCATCTCCCCTCC	GRCh38
NC_000019.9:g.45860472_45860498delinsGCGGCCCCTTGCCCCCATCTCCCCTCC , CM000681.1:g.45860472_45860498delinsGCGGCCCCTTGCCCCCATCTCCCCTCC	GRCh37
NC_000019.8:g.50552312_50552338delinsGCGGCCCCTTGCCCCCATCTCCCCTCC	NCBI36
NG_007067.2:g.18348_18374delinsGGAGGGGAGATGGGGGCAAGGGGCCGC , LRG_461:g.18348_18374delinsGGAGGGGAGATGGGGGCAAGGGGCCGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.1479+30_1479+56delinsGGAGGGGAGATGGGGGCAAGGGGCCGC	ENSP00000375808.4:n.1479+30_1479+56delins...
ENST00000682414.1:c.1479+30_1479+56delinsGGAGGGGAGATGGGGGCAAGGGGCCGC	ENSP00000507019.1:n.1479+30_1479+56delins...
ENST00000682508.1:n.1508+30_1508+56delinsGGAGGGGAGATGGGGGCAAGGGGCCGC
ENST00000684218.1:c.*737+30_*737+56delinsGGAGGGGAGATGGGGGCAAGGGGCCGC	ENSP00000507804.1:n.*737+30_*737+56delins...
ENST00000684264.1:n.1035+30_1035+56delinsGGAGGGGAGATGGGGGCAAGGGGCCGC
ENST00000684407.1:c.1356+30_1356+56delinsGGAGGGGAGATGGGGGCAAGGGGCCGC	ENSP00000507775.1:n.1356+30_1356+56delins...
ENST00000684458.1:c.*29+30_*29+56delinsGGAGGGGAGATGGGGGCAAGGGGCCGC	ENSP00000508260.1:n.*29+30_*29+56delinsGG...
ENST00000684468.1:n.1255+30_1255+56delinsGGAGGGGAGATGGGGGCAAGGGGCCGC
ENST00000391945.10:c.1479+30_1479+56delinsGGAGGGGAGATGGGGGCAAGGGGCCGC MANE Select	ENSP00000375809.4:n.1479+30_1479+56delins...
ENST00000587376.6:c.602+30_602+56delinsGGAGGGGAGATGGGGGCAAGGGGCCGC
ENST00000646507.1:n.1576+30_1576+56delinsGGAGGGGAGATGGGGGCAAGGGGCCGC
ENST00000391941.6:c.1407+30_1407+56delinsGGAGGGGAGATGGGGGCAAGGGGCCGC	ENSP00000375805.2:n.1407+30_1407+56delins...
ENST00000391942.6:n.650+30_650+56delinsGGAGGGGAGATGGGGGCAAGGGGCCGC
ENST00000391944.7:c.1245+30_1245+56delinsGGAGGGGAGATGGGGGCAAGGGGCCGC	ENSP00000375808.3:n.1245+30_1245+56delins...
ENST00000391945.8:c.1479+30_1479+56delinsGGAGGGGAGATGGGGGCAAGGGGCCGC	ENSP00000375809.3:n.1479+30_1479+56delins...
ENST00000587376.5:c.602+30_602+56delinsGGAGGGGAGATGGGGGCAAGGGGCCGC
ENST00000588652.5:n.1567+30_1567+56delinsGGAGGGGAGATGGGGGCAAGGGGCCGC
NM_000400.3:c.1479+30_1479+56delinsGGAGGGGAGATGGGGGCAAGGGGCCGC , LRG_461t1:c.1479+30_1479+56delinsGGAGGGGAGATGGGGGCAAGGGGCCGC	NP_000391.1:n.1479+30_1479+56delinsGGAGGG...
XM_011526611.1:c.1401+30_1401+56delinsGGAGGGGAGATGGGGGCAAGGGGCCGC	XP_011524913.1:n.1401+30_1401+56delinsGGA...
XR_935763.1:n.1526+30_1526+56delinsGGAGGGGAGATGGGGGCAAGGGGCCGC
XM_011526611.2:c.1401+30_1401+56delinsGGAGGGGAGATGGGGGCAAGGGGCCGC	XP_011524913.1:n.1401+30_1401+56delinsGGA...
XM_017026467.1:c.1356+30_1356+56delinsGGAGGGGAGATGGGGGCAAGGGGCCGC	XP_016881956.1:n.1356+30_1356+56delinsGGA...
XR_001753633.2:n.1526+30_1526+56delinsGGAGGGGAGATGGGGGCAAGGGGCCGC
XR_001753634.2:n.1526+30_1526+56delinsGGAGGGGAGATGGGGGCAAGGGGCCGC
NM_000400.4:c.1479+30_1479+56delinsGGAGGGGAGATGGGGGCAAGGGGCCGC MANE Select	NP_000391.1:n.1479+30_1479+56delinsGGAGGG...