Canonical Allele Identifier: CA2338388486

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352003_45352021delinsCGTGCCTGGGCCACCTGCT , CM000681.2:g.45352003_45352021delinsCGTGCCTGGGCCACCTGCT	GRCh38
NC_000019.9:g.45855261_45855279delinsCGTGCCTGGGCCACCTGCT , CM000681.1:g.45855261_45855279delinsCGTGCCTGGGCCACCTGCT	GRCh37
NC_000019.8:g.50547101_50547119delinsCGTGCCTGGGCCACCTGCT	NCBI36
NG_007067.2:g.23567_23585delinsAGCAGGTGGCCCAGGCACG , LRG_461:g.23567_23585delinsAGCAGGTGGCCCAGGCACG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2378_2396delinsAGCAGGTGGCCCAGGCACG	ENSP00000375808.4:p.Gln793=
ENST00000682414.1:c.2190+188_2190+206delinsAGCAGGTGGCCCAGGCACG	ENSP00000507019.1:n.2190+188_2190+206delinsAGCAGGTGGCCCAGGCAC...
ENST00000682508.1:n.2219+188_2219+206delinsAGCAGGTGGCCCAGGCACG
ENST00000684218.1:c.*1448+188_*1448+206delinsAGCAGGTGGCCCAGGCACG	ENSP00000507804.1:n.*1448+188_*1448+206delinsAGCAGGTGGCCCAGGC...
ENST00000684264.1:n.1746+188_1746+206delinsAGCAGGTGGCCCAGGCACG
ENST00000684407.1:c.2067+188_2067+206delinsAGCAGGTGGCCCAGGCACG	ENSP00000507775.1:n.2067+188_2067+206delinsAGCAGGTGGCCCAGGCAC...
ENST00000684458.1:c.*676+188_*676+206delinsAGCAGGTGGCCCAGGCACG	ENSP00000508260.1:n.*676+188_*676+206delinsAGCAGGTGGCCCAGGCAC...
ENST00000684468.1:n.1902+188_1902+206delinsAGCAGGTGGCCCAGGCACG
ENST00000391945.10:c.2190+188_2190+206delinsAGCAGGTGGCCCAGGCACG MANE Select	ENSP00000375809.4:n.2190+188_2190+206delinsAGCAGGTGGCCCAGGCAC...
ENST00000646507.1:n.2287+188_2287+206delinsAGCAGGTGGCCCAGGCACG
ENST00000391942.6:n.1361+188_1361+206delinsAGCAGGTGGCCCAGGCACG
ENST00000391944.7:c.1956+188_1956+206delinsAGCAGGTGGCCCAGGCACG	ENSP00000375808.3:n.1956+188_1956+206delinsAGCAGGTGGCCCAGGCAC...
ENST00000391945.8:c.2190+188_2190+206delinsAGCAGGTGGCCCAGGCACG	ENSP00000375809.3:n.2190+188_2190+206delinsAGCAGGTGGCCCAGGCAC...
ENST00000588652.5:n.2278+188_2278+206delinsAGCAGGTGGCCCAGGCACG
NM_000400.3:c.2190+188_2190+206delinsAGCAGGTGGCCCAGGCACG , LRG_461t1:c.2190+188_2190+206delinsAGCAGGTGGCCCAGGCACG	NP_000391.1:n.2190+188_2190+206delinsAGCAGGTGGCCCAGGCACG
XM_011526611.1:c.2112+188_2112+206delinsAGCAGGTGGCCCAGGCACG	XP_011524913.1:n.2112+188_2112+206delinsAGCAGGTGGCCCAGGCACG
XM_011526611.2:c.2112+188_2112+206delinsAGCAGGTGGCCCAGGCACG	XP_011524913.1:n.2112+188_2112+206delinsAGCAGGTGGCCCAGGCACG
XM_017026467.1:c.2067+188_2067+206delinsAGCAGGTGGCCCAGGCACG	XP_016881956.1:n.2067+188_2067+206delinsAGCAGGTGGCCCAGGCACG
XR_001753633.2:n.2237+188_2237+206delinsAGCAGGTGGCCCAGGCACG
XR_001753634.2:n.2173+188_2173+206delinsAGCAGGTGGCCCAGGCACG
NM_000400.4:c.2190+188_2190+206delinsAGCAGGTGGCCCAGGCACG MANE Select	NP_000391.1:n.2190+188_2190+206delinsAGCAGGTGGCCCAGGCACG