Canonical Allele Identifier: CA2338388562

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352094_45352117delinsTGCTGAGGGCAGGAGGACAGGCAG , CM000681.2:g.45352094_45352117delinsTGCTGAGGGCAGGAGGACAGGCAG	GRCh38
NC_000019.9:g.45855352_45855375delinsTGCTGAGGGCAGGAGGACAGGCAG , CM000681.1:g.45855352_45855375delinsTGCTGAGGGCAGGAGGACAGGCAG	GRCh37
NC_000019.8:g.50547192_50547215delinsTGCTGAGGGCAGGAGGACAGGCAG	NCBI36
NG_007067.2:g.23471_23494delinsCTGCCTGTCCTCCTGCCCTCAGCA , LRG_461:g.23471_23494delinsCTGCCTGTCCTCCTGCCCTCAGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2282_2305delinsCTGCCTGTCCTCCTGCCCTCAGCA	ENSP00000375808.4:p.Pro761=
ENST00000682414.1:c.2190+92_2190+115delinsCTGCCTGTCCTCCTGCCCTCAGCA	ENSP00000507019.1:n.2190+92_2190+115delinsCTGCCTGTCCTCCTGCCCT...
ENST00000682508.1:n.2219+92_2219+115delinsCTGCCTGTCCTCCTGCCCTCAGCA
ENST00000684218.1:c.*1448+92_*1448+115delinsCTGCCTGTCCTCCTGCCCTCAGCA	ENSP00000507804.1:n.*1448+92_*1448+115delinsCTGCCTGTCCTCCTGCC...
ENST00000684264.1:n.1746+92_1746+115delinsCTGCCTGTCCTCCTGCCCTCAGCA
ENST00000684407.1:c.2067+92_2067+115delinsCTGCCTGTCCTCCTGCCCTCAGCA	ENSP00000507775.1:n.2067+92_2067+115delinsCTGCCTGTCCTCCTGCCCT...
ENST00000684458.1:c.*676+92_*676+115delinsCTGCCTGTCCTCCTGCCCTCAGCA	ENSP00000508260.1:n.*676+92_*676+115delinsCTGCCTGTCCTCCTGCCCT...
ENST00000684468.1:n.1902+92_1902+115delinsCTGCCTGTCCTCCTGCCCTCAGCA
ENST00000391945.10:c.2190+92_2190+115delinsCTGCCTGTCCTCCTGCCCTCAGCA MANE Select	ENSP00000375809.4:n.2190+92_2190+115delinsCTGCCTGTCCTCCTGCCCT...
ENST00000646507.1:n.2287+92_2287+115delinsCTGCCTGTCCTCCTGCCCTCAGCA
ENST00000391942.6:n.1361+92_1361+115delinsCTGCCTGTCCTCCTGCCCTCAGCA
ENST00000391944.7:c.1956+92_1956+115delinsCTGCCTGTCCTCCTGCCCTCAGCA	ENSP00000375808.3:n.1956+92_1956+115delinsCTGCCTGTCCTCCTGCCCT...
ENST00000391945.8:c.2190+92_2190+115delinsCTGCCTGTCCTCCTGCCCTCAGCA	ENSP00000375809.3:n.2190+92_2190+115delinsCTGCCTGTCCTCCTGCCCT...
ENST00000588652.5:n.2278+92_2278+115delinsCTGCCTGTCCTCCTGCCCTCAGCA
NM_000400.3:c.2190+92_2190+115delinsCTGCCTGTCCTCCTGCCCTCAGCA , LRG_461t1:c.2190+92_2190+115delinsCTGCCTGTCCTCCTGCCCTCAGCA	NP_000391.1:n.2190+92_2190+115delinsCTGCCTGTCCTCCTGCCCTCAGCA
XM_011526611.1:c.2112+92_2112+115delinsCTGCCTGTCCTCCTGCCCTCAGCA	XP_011524913.1:n.2112+92_2112+115delinsCTGCCTGTCCTCCTGCCCTCAG...
XM_011526611.2:c.2112+92_2112+115delinsCTGCCTGTCCTCCTGCCCTCAGCA	XP_011524913.1:n.2112+92_2112+115delinsCTGCCTGTCCTCCTGCCCTCAG...
XM_017026467.1:c.2067+92_2067+115delinsCTGCCTGTCCTCCTGCCCTCAGCA	XP_016881956.1:n.2067+92_2067+115delinsCTGCCTGTCCTCCTGCCCTCAG...
XR_001753633.2:n.2237+92_2237+115delinsCTGCCTGTCCTCCTGCCCTCAGCA
XR_001753634.2:n.2173+92_2173+115delinsCTGCCTGTCCTCCTGCCCTCAGCA
NM_000400.4:c.2190+92_2190+115delinsCTGCCTGTCCTCCTGCCCTCAGCA MANE Select	NP_000391.1:n.2190+92_2190+115delinsCTGCCTGTCCTCCTGCCCTCAGCA