Canonical Allele Identifier: CA2338388593

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352122_45352129delinsAGGGTGGG , CM000681.2:g.45352122_45352129delinsAGGGTGGG	GRCh38
NC_000019.9:g.45855380_45855387delinsAGGGTGGG , CM000681.1:g.45855380_45855387delinsAGGGTGGG	GRCh37
NC_000019.8:g.50547220_50547227delinsAGGGTGGG	NCBI36
NG_007067.2:g.23459_23466delinsCCCACCCT , LRG_461:g.23459_23466delinsCCCACCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2270_2277delinsCCCACCCT	ENSP00000375808.4:p.Pro757=
ENST00000682414.1:c.2190+80_2190+87delinsCCCACCCT	ENSP00000507019.1:n.2190+80_2190+87delinsCCCACCCT
ENST00000682508.1:n.2219+80_2219+87delinsCCCACCCT
ENST00000684218.1:c.*1448+80_*1448+87delinsCCCACCCT	ENSP00000507804.1:n.*1448+80_*1448+87delinsCCCACCCT
ENST00000684264.1:n.1746+80_1746+87delinsCCCACCCT
ENST00000684407.1:c.2067+80_2067+87delinsCCCACCCT	ENSP00000507775.1:n.2067+80_2067+87delinsCCCACCCT
ENST00000684458.1:c.*676+80_*676+87delinsCCCACCCT	ENSP00000508260.1:n.*676+80_*676+87delinsCCCACCCT
ENST00000684468.1:n.1902+80_1902+87delinsCCCACCCT
ENST00000391945.10:c.2190+80_2190+87delinsCCCACCCT MANE Select	ENSP00000375809.4:n.2190+80_2190+87delinsCCCACCCT
ENST00000646507.1:n.2287+80_2287+87delinsCCCACCCT
ENST00000391942.6:n.1361+80_1361+87delinsCCCACCCT
ENST00000391944.7:c.1956+80_1956+87delinsCCCACCCT	ENSP00000375808.3:n.1956+80_1956+87delinsCCCACCCT
ENST00000391945.8:c.2190+80_2190+87delinsCCCACCCT	ENSP00000375809.3:n.2190+80_2190+87delinsCCCACCCT
ENST00000588652.5:n.2278+80_2278+87delinsCCCACCCT
NM_000400.3:c.2190+80_2190+87delinsCCCACCCT , LRG_461t1:c.2190+80_2190+87delinsCCCACCCT	NP_000391.1:n.2190+80_2190+87delinsCCCACCCT
XM_011526611.1:c.2112+80_2112+87delinsCCCACCCT	XP_011524913.1:n.2112+80_2112+87delinsCCCACCCT
XM_011526611.2:c.2112+80_2112+87delinsCCCACCCT	XP_011524913.1:n.2112+80_2112+87delinsCCCACCCT
XM_017026467.1:c.2067+80_2067+87delinsCCCACCCT	XP_016881956.1:n.2067+80_2067+87delinsCCCACCCT
XR_001753633.2:n.2237+80_2237+87delinsCCCACCCT
XR_001753634.2:n.2173+80_2173+87delinsCCCACCCT
NM_000400.4:c.2190+80_2190+87delinsCCCACCCT MANE Select	NP_000391.1:n.2190+80_2190+87delinsCCCACCCT