Canonical Allele Identifier: CA2338389135

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352916_45352958delinsAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGG , CM000681.2:g.45352916_45352958delinsAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGG	GRCh38
NC_000019.9:g.45856174_45856216delinsAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGG , CM000681.1:g.45856174_45856216delinsAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGG	GRCh37
NC_000019.8:g.50548014_50548056delinsAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGG	NCBI36
NG_007067.2:g.22630_22672delinsCCCTCCCCTCTGTCCCTAGGCACCCGGCGGGAACACACCCTCT , LRG_461:g.22630_22672delinsCCCTCCCCTCTGTCCCTAGGCACCCGGCGGGAACACACCCTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1831+125_1832-100delinsCCCTCCCCTCTGTCCCTAGGCACCCGGCGGGAACACACCCTCT	ENSP00000375808.4:n.1831+125_1832-100delinsCCCTCCCCTCTGTCCCTA...
ENST00000682414.1:c.1831+125_1832-100delinsCCCTCCCCTCTGTCCCTAGGCACCCGGCGGGAACACACCCTCT	ENSP00000507019.1:n.1831+125_1832-100delinsCCCTCCCCTCTGTCCCTA...
ENST00000682508.1:n.1860+125_1861-100delinsCCCTCCCCTCTGTCCCTAGGCACCCGGCGGGAACACACCCTCT
ENST00000684218.1:c.*1089+125_*1090-100delinsCCCTCCCCTCTGTCCCTAGGCACCCGGCGGGAACACACCCTCT	ENSP00000507804.1:n.*1089+125_*1090-100delinsCCCTCCCCTCTGTCCC...
ENST00000684264.1:n.1387+125_1388-100delinsCCCTCCCCTCTGTCCCTAGGCACCCGGCGGGAACACACCCTCT
ENST00000684407.1:c.1708+125_1709-100delinsCCCTCCCCTCTGTCCCTAGGCACCCGGCGGGAACACACCCTCT	ENSP00000507775.1:n.1708+125_1709-100delinsCCCTCCCCTCTGTCCCTA...
ENST00000684458.1:c.*317+125_*318-100delinsCCCTCCCCTCTGTCCCTAGGCACCCGGCGGGAACACACCCTCT	ENSP00000508260.1:n.*317+125_*318-100delinsCCCTCCCCTCTGTCCCTA...
ENST00000684468.1:n.1543+125_1544-100delinsCCCTCCCCTCTGTCCCTAGGCACCCGGCGGGAACACACCCTCT
ENST00000391945.10:c.1831+125_1832-100delinsCCCTCCCCTCTGTCCCTAGGCACCCGGCGGGAACACACCCTCT MANE Select	ENSP00000375809.4:n.1831+125_1832-100delinsCCCTCCCCTCTGTCCCTA...
ENST00000646507.1:n.1928+125_1929-100delinsCCCTCCCCTCTGTCCCTAGGCACCCGGCGGGAACACACCCTCT
ENST00000391941.6:c.1759+125_1760-100delinsCCCTCCCCTCTGTCCCTAGGCACCCGGCGGGAACACACCCTCT	ENSP00000375805.2:n.1759+125_1760-100delinsCCCTCCCCTCTGTCCCTA...
ENST00000391942.6:n.1002+125_1003-100delinsCCCTCCCCTCTGTCCCTAGGCACCCGGCGGGAACACACCCTCT
ENST00000391944.7:c.1597+125_1598-100delinsCCCTCCCCTCTGTCCCTAGGCACCCGGCGGGAACACACCCTCT	ENSP00000375808.3:n.1597+125_1598-100delinsCCCTCCCCTCTGTCCCTA...
ENST00000391945.8:c.1831+125_1832-100delinsCCCTCCCCTCTGTCCCTAGGCACCCGGCGGGAACACACCCTCT	ENSP00000375809.3:n.1831+125_1832-100delinsCCCTCCCCTCTGTCCCTA...
ENST00000588652.5:n.1919+125_1920-100delinsCCCTCCCCTCTGTCCCTAGGCACCCGGCGGGAACACACCCTCT
NM_000400.3:c.1831+125_1832-100delinsCCCTCCCCTCTGTCCCTAGGCACCCGGCGGGAACACACCCTCT , LRG_461t1:c.1831+125_1832-100delinsCCCTCCCCTCTGTCCCTAGGCACCCGGCGGGAACACACCCTCT	NP_000391.1:n.1831+125_1832-100delinsCCCTCCCCTCTGTCCCTAGGCACC...
XM_011526611.1:c.1753+125_1754-100delinsCCCTCCCCTCTGTCCCTAGGCACCCGGCGGGAACACACCCTCT	XP_011524913.1:n.1753+125_1754-100delinsCCCTCCCCTCTGTCCCTAGGC...
XM_011526611.2:c.1753+125_1754-100delinsCCCTCCCCTCTGTCCCTAGGCACCCGGCGGGAACACACCCTCT	XP_011524913.1:n.1753+125_1754-100delinsCCCTCCCCTCTGTCCCTAGGC...
XM_017026467.1:c.1708+125_1709-100delinsCCCTCCCCTCTGTCCCTAGGCACCCGGCGGGAACACACCCTCT	XP_016881956.1:n.1708+125_1709-100delinsCCCTCCCCTCTGTCCCTAGGC...
XR_001753633.2:n.1878+125_1879-100delinsCCCTCCCCTCTGTCCCTAGGCACCCGGCGGGAACACACCCTCT
XR_001753634.2:n.1814+125_1815-100delinsCCCTCCCCTCTGTCCCTAGGCACCCGGCGGGAACACACCCTCT
NM_000400.4:c.1831+125_1832-100delinsCCCTCCCCTCTGTCCCTAGGCACCCGGCGGGAACACACCCTCT MANE Select	NP_000391.1:n.1831+125_1832-100delinsCCCTCCCCTCTGTCCCTAGGCACC...