Canonical Allele Identifier: CA2338388570

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352103_45352126delinsCAGGAGGACAGGCAGGCTGAGGGT , CM000681.2:g.45352103_45352126delinsCAGGAGGACAGGCAGGCTGAGGGT	GRCh38
NC_000019.9:g.45855361_45855384delinsCAGGAGGACAGGCAGGCTGAGGGT , CM000681.1:g.45855361_45855384delinsCAGGAGGACAGGCAGGCTGAGGGT	GRCh37
NC_000019.8:g.50547201_50547224delinsCAGGAGGACAGGCAGGCTGAGGGT	NCBI36
NG_007067.2:g.23462_23485delinsACCCTCAGCCTGCCTGTCCTCCTG , LRG_461:g.23462_23485delinsACCCTCAGCCTGCCTGTCCTCCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2273_2296delinsACCCTCAGCCTGCCTGTCCTCCTG	ENSP00000375808.4:p.His758=
ENST00000682414.1:c.2190+83_2190+106delinsACCCTCAGCCTGCCTGTCCTCCTG	ENSP00000507019.1:n.2190+83_2190+106delinsACCCTCAGCCTGCCTGTCC...
ENST00000682508.1:n.2219+83_2219+106delinsACCCTCAGCCTGCCTGTCCTCCTG
ENST00000684218.1:c.*1448+83_*1448+106delinsACCCTCAGCCTGCCTGTCCTCCTG	ENSP00000507804.1:n.*1448+83_*1448+106delinsACCCTCAGCCTGCCTGT...
ENST00000684264.1:n.1746+83_1746+106delinsACCCTCAGCCTGCCTGTCCTCCTG
ENST00000684407.1:c.2067+83_2067+106delinsACCCTCAGCCTGCCTGTCCTCCTG	ENSP00000507775.1:n.2067+83_2067+106delinsACCCTCAGCCTGCCTGTCC...
ENST00000684458.1:c.*676+83_*676+106delinsACCCTCAGCCTGCCTGTCCTCCTG	ENSP00000508260.1:n.*676+83_*676+106delinsACCCTCAGCCTGCCTGTCC...
ENST00000684468.1:n.1902+83_1902+106delinsACCCTCAGCCTGCCTGTCCTCCTG
ENST00000391945.10:c.2190+83_2190+106delinsACCCTCAGCCTGCCTGTCCTCCTG MANE Select	ENSP00000375809.4:n.2190+83_2190+106delinsACCCTCAGCCTGCCTGTCC...
ENST00000646507.1:n.2287+83_2287+106delinsACCCTCAGCCTGCCTGTCCTCCTG
ENST00000391942.6:n.1361+83_1361+106delinsACCCTCAGCCTGCCTGTCCTCCTG
ENST00000391944.7:c.1956+83_1956+106delinsACCCTCAGCCTGCCTGTCCTCCTG	ENSP00000375808.3:n.1956+83_1956+106delinsACCCTCAGCCTGCCTGTCC...
ENST00000391945.8:c.2190+83_2190+106delinsACCCTCAGCCTGCCTGTCCTCCTG	ENSP00000375809.3:n.2190+83_2190+106delinsACCCTCAGCCTGCCTGTCC...
ENST00000588652.5:n.2278+83_2278+106delinsACCCTCAGCCTGCCTGTCCTCCTG
NM_000400.3:c.2190+83_2190+106delinsACCCTCAGCCTGCCTGTCCTCCTG , LRG_461t1:c.2190+83_2190+106delinsACCCTCAGCCTGCCTGTCCTCCTG	NP_000391.1:n.2190+83_2190+106delinsACCCTCAGCCTGCCTGTCCTCCTG
XM_011526611.1:c.2112+83_2112+106delinsACCCTCAGCCTGCCTGTCCTCCTG	XP_011524913.1:n.2112+83_2112+106delinsACCCTCAGCCTGCCTGTCCTCC...
XM_011526611.2:c.2112+83_2112+106delinsACCCTCAGCCTGCCTGTCCTCCTG	XP_011524913.1:n.2112+83_2112+106delinsACCCTCAGCCTGCCTGTCCTCC...
XM_017026467.1:c.2067+83_2067+106delinsACCCTCAGCCTGCCTGTCCTCCTG	XP_016881956.1:n.2067+83_2067+106delinsACCCTCAGCCTGCCTGTCCTCC...
XR_001753633.2:n.2237+83_2237+106delinsACCCTCAGCCTGCCTGTCCTCCTG
XR_001753634.2:n.2173+83_2173+106delinsACCCTCAGCCTGCCTGTCCTCCTG
NM_000400.4:c.2190+83_2190+106delinsACCCTCAGCCTGCCTGTCCTCCTG MANE Select	NP_000391.1:n.2190+83_2190+106delinsACCCTCAGCCTGCCTGTCCTCCTG