Canonical Allele Identifier: CA2338395747

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364093_45364094delinsAG , CM000681.2:g.45364093_45364094delinsAG	GRCh38
NC_000019.9:g.45867351_45867352delinsAG , CM000681.1:g.45867351_45867352delinsAG	GRCh37
NC_000019.8:g.50559191_50559192delinsAG	NCBI36
NG_007067.2:g.11494_11495delinsCT , LRG_461:g.11494_11495delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.841_842delinsCT	ENSP00000375808.4:p.Leu281=
ENST00000682414.1:c.841_842delinsCT	ENSP00000507019.1:p.Leu281=
ENST00000682508.1:n.870_871delinsCT
ENST00000684218.1:c.*99_*100delinsCT	ENSP00000507804.1:n.*99_*100delinsCT
ENST00000684407.1:c.718_719delinsCT	ENSP00000507775.1:p.Leu240=
ENST00000684458.1:c.841_842delinsCT	ENSP00000508260.1:p.Leu281=
ENST00000391945.10:c.841_842delinsCT MANE Select	ENSP00000375809.4:p.Leu281=
ENST00000586131.6:c.769_770delinsCT	ENSP00000464887.1:p.Leu257=
ENST00000646507.1:n.938_939delinsCT
ENST00000391941.6:c.769_770delinsCT	ENSP00000375805.2:p.Leu257=
ENST00000391944.7:c.607_608delinsCT	ENSP00000375808.3:p.Leu203=
ENST00000391945.8:c.841_842delinsCT	ENSP00000375809.3:p.Leu281=
ENST00000485403.6:c.769_770delinsCT	ENSP00000431229.2:p.Leu257=
ENST00000586131.5:c.769_770delinsCT	ENSP00000464887.1:p.Leu257=
ENST00000586737.5:n.478_479delinsCT
ENST00000591309.5:c.*99_*100delinsCT	ENSP00000465207.1:n.*99_*100delinsCT
NM_000400.3:c.841_842delinsCT , LRG_461t1:c.841_842delinsCT	NP_000391.1:p.Leu281=
NM_001130867.1:c.769_770delinsCT	NP_001124339.1:p.Leu257=
XM_011526611.1:c.763_764delinsCT	XP_011524913.1:p.Leu255=
XR_935763.1:n.888_889delinsCT
XM_011526611.2:c.763_764delinsCT	XP_011524913.1:p.Leu255=
XM_017026467.1:c.718_719delinsCT	XP_016881956.1:p.Leu240=
XR_001753633.2:n.888_889delinsCT
XR_001753634.2:n.888_889delinsCT
NM_000400.4:c.841_842delinsCT MANE Select	NP_000391.1:p.Leu281=
NM_001130867.2:c.769_770delinsCT	NP_001124339.1:p.Leu257=