Canonical Allele Identifier: CA2338388502

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352020_45352030delinsCTGGCATCTGT , CM000681.2:g.45352020_45352030delinsCTGGCATCTGT	GRCh38
NC_000019.9:g.45855278_45855288delinsCTGGCATCTGT , CM000681.1:g.45855278_45855288delinsCTGGCATCTGT	GRCh37
NC_000019.8:g.50547118_50547128delinsCTGGCATCTGT	NCBI36
NG_007067.2:g.23558_23568delinsACAGATGCCAG , LRG_461:g.23558_23568delinsACAGATGCCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2369_2379delinsACAGATGCCAG	ENSP00000375808.4:p.His790=
ENST00000682414.1:c.2190+179_2190+189delinsACAGATGCCAG	ENSP00000507019.1:n.2190+179_2190+189delinsACAGATGCCAG
ENST00000682508.1:n.2219+179_2219+189delinsACAGATGCCAG
ENST00000684218.1:c.*1448+179_*1448+189delinsACAGATGCCAG	ENSP00000507804.1:n.*1448+179_*1448+189delinsACAGATGCCAG
ENST00000684264.1:n.1746+179_1746+189delinsACAGATGCCAG
ENST00000684407.1:c.2067+179_2067+189delinsACAGATGCCAG	ENSP00000507775.1:n.2067+179_2067+189delinsACAGATGCCAG
ENST00000684458.1:c.*676+179_*676+189delinsACAGATGCCAG	ENSP00000508260.1:n.*676+179_*676+189delinsACAGATGCCAG
ENST00000684468.1:n.1902+179_1902+189delinsACAGATGCCAG
ENST00000391945.10:c.2190+179_2190+189delinsACAGATGCCAG MANE Select	ENSP00000375809.4:n.2190+179_2190+189delinsACAGATGCCAG
ENST00000646507.1:n.2287+179_2287+189delinsACAGATGCCAG
ENST00000391942.6:n.1361+179_1361+189delinsACAGATGCCAG
ENST00000391944.7:c.1956+179_1956+189delinsACAGATGCCAG	ENSP00000375808.3:n.1956+179_1956+189delinsACAGATGCCAG
ENST00000391945.8:c.2190+179_2190+189delinsACAGATGCCAG	ENSP00000375809.3:n.2190+179_2190+189delinsACAGATGCCAG
ENST00000588652.5:n.2278+179_2278+189delinsACAGATGCCAG
NM_000400.3:c.2190+179_2190+189delinsACAGATGCCAG , LRG_461t1:c.2190+179_2190+189delinsACAGATGCCAG	NP_000391.1:n.2190+179_2190+189delinsACAGATGCCAG
XM_011526611.1:c.2112+179_2112+189delinsACAGATGCCAG	XP_011524913.1:n.2112+179_2112+189delinsACAGATGCCAG
XM_011526611.2:c.2112+179_2112+189delinsACAGATGCCAG	XP_011524913.1:n.2112+179_2112+189delinsACAGATGCCAG
XM_017026467.1:c.2067+179_2067+189delinsACAGATGCCAG	XP_016881956.1:n.2067+179_2067+189delinsACAGATGCCAG
XR_001753633.2:n.2237+179_2237+189delinsACAGATGCCAG
XR_001753634.2:n.2173+179_2173+189delinsACAGATGCCAG
NM_000400.4:c.2190+179_2190+189delinsACAGATGCCAG MANE Select	NP_000391.1:n.2190+179_2190+189delinsACAGATGCCAG