Canonical Allele Identifier: CA2338388887

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352546_45352547delinsCT , CM000681.2:g.45352546_45352547delinsCT	GRCh38
NC_000019.9:g.45855804_45855805delinsCT , CM000681.1:g.45855804_45855805delinsCT	GRCh37
NC_000019.8:g.50547644_50547645delinsCT	NCBI36
NG_007067.2:g.23041_23042delinsAG , LRG_461:g.23041_23042delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2005_2006delinsAG	ENSP00000375808.4:p.Arg669=
ENST00000682414.1:c.2005_2006delinsAG	ENSP00000507019.1:p.Arg669=
ENST00000682508.1:n.2034_2035delinsAG
ENST00000684218.1:c.*1263_*1264delinsAG	ENSP00000507804.1:n.*1263_*1264delinsAG
ENST00000684264.1:n.1561_1562delinsAG
ENST00000684407.1:c.1882_1883delinsAG	ENSP00000507775.1:p.Arg628=
ENST00000684458.1:c.*491_*492delinsAG	ENSP00000508260.1:n.*491_*492delinsAG
ENST00000684468.1:n.1717_1718delinsAG
ENST00000391945.10:c.2005_2006delinsAG MANE Select	ENSP00000375809.4:p.Arg669=
ENST00000646507.1:n.2102_2103delinsAG
ENST00000391941.6:c.1933_1934delinsAG	ENSP00000375805.2:p.Arg645=
ENST00000391942.6:n.1176_1177delinsAG
ENST00000391944.7:c.1771_1772delinsAG	ENSP00000375808.3:p.Arg591=
ENST00000391945.8:c.2005_2006delinsAG	ENSP00000375809.3:p.Arg669=
ENST00000588652.5:n.2093_2094delinsAG
NM_000400.3:c.2005_2006delinsAG , LRG_461t1:c.2005_2006delinsAG	NP_000391.1:p.Arg669=
XM_011526611.1:c.1927_1928delinsAG	XP_011524913.1:p.Arg643=
XM_011526611.2:c.1927_1928delinsAG	XP_011524913.1:p.Arg643=
XM_017026467.1:c.1882_1883delinsAG	XP_016881956.1:p.Arg628=
XR_001753633.2:n.2052_2053delinsAG
XR_001753634.2:n.1988_1989delinsAG
NM_000400.4:c.2005_2006delinsAG MANE Select	NP_000391.1:p.Arg669=