Canonical Allele Identifier: CA2338388566

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352102_45352110delinsGCAGGAGGA , CM000681.2:g.45352102_45352110delinsGCAGGAGGA	GRCh38
NC_000019.9:g.45855360_45855368delinsGCAGGAGGA , CM000681.1:g.45855360_45855368delinsGCAGGAGGA	GRCh37
NC_000019.8:g.50547200_50547208delinsGCAGGAGGA	NCBI36
NG_007067.2:g.23478_23486delinsTCCTCCTGC , LRG_461:g.23478_23486delinsTCCTCCTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2289_2297delinsTCCTCCTGC	ENSP00000375808.4:p.Cys763=
ENST00000682414.1:c.2190+99_2190+107delinsTCCTCCTGC	ENSP00000507019.1:n.2190+99_2190+107delinsTCCTCCTGC
ENST00000682508.1:n.2219+99_2219+107delinsTCCTCCTGC
ENST00000684218.1:c.*1448+99_*1448+107delinsTCCTCCTGC	ENSP00000507804.1:n.*1448+99_*1448+107delinsTCCTCCTGC
ENST00000684264.1:n.1746+99_1746+107delinsTCCTCCTGC
ENST00000684407.1:c.2067+99_2067+107delinsTCCTCCTGC	ENSP00000507775.1:n.2067+99_2067+107delinsTCCTCCTGC
ENST00000684458.1:c.*676+99_*676+107delinsTCCTCCTGC	ENSP00000508260.1:n.*676+99_*676+107delinsTCCTCCTGC
ENST00000684468.1:n.1902+99_1902+107delinsTCCTCCTGC
ENST00000391945.10:c.2190+99_2190+107delinsTCCTCCTGC MANE Select	ENSP00000375809.4:n.2190+99_2190+107delinsTCCTCCTGC
ENST00000646507.1:n.2287+99_2287+107delinsTCCTCCTGC
ENST00000391942.6:n.1361+99_1361+107delinsTCCTCCTGC
ENST00000391944.7:c.1956+99_1956+107delinsTCCTCCTGC	ENSP00000375808.3:n.1956+99_1956+107delinsTCCTCCTGC
ENST00000391945.8:c.2190+99_2190+107delinsTCCTCCTGC	ENSP00000375809.3:n.2190+99_2190+107delinsTCCTCCTGC
ENST00000588652.5:n.2278+99_2278+107delinsTCCTCCTGC
NM_000400.3:c.2190+99_2190+107delinsTCCTCCTGC , LRG_461t1:c.2190+99_2190+107delinsTCCTCCTGC	NP_000391.1:n.2190+99_2190+107delinsTCCTCCTGC
XM_011526611.1:c.2112+99_2112+107delinsTCCTCCTGC	XP_011524913.1:n.2112+99_2112+107delinsTCCTCCTGC
XM_011526611.2:c.2112+99_2112+107delinsTCCTCCTGC	XP_011524913.1:n.2112+99_2112+107delinsTCCTCCTGC
XM_017026467.1:c.2067+99_2067+107delinsTCCTCCTGC	XP_016881956.1:n.2067+99_2067+107delinsTCCTCCTGC
XR_001753633.2:n.2237+99_2237+107delinsTCCTCCTGC
XR_001753634.2:n.2173+99_2173+107delinsTCCTCCTGC
NM_000400.4:c.2190+99_2190+107delinsTCCTCCTGC MANE Select	NP_000391.1:n.2190+99_2190+107delinsTCCTCCTGC