Canonical Allele Identifier: CA2338388889

Gene: ERCC2

Linked Data

• dbSNP Id: rs1971845137

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352547dup , CM000681.2:g.45352547dup	GRCh38
NC_000019.9:g.45855805dup , CM000681.1:g.45855805dup	GRCh37
NC_000019.8:g.50547645dup	NCBI36
NG_007067.2:g.23041dup , LRG_461:g.23041dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2005dup	ENSP00000375808.4:p.Arg669LysfsTer?
ENST00000682414.1:c.2005dup	ENSP00000507019.1:p.Arg669LysfsTer?
ENST00000682508.1:n.2034dup
ENST00000684218.1:c.*1263dup	ENSP00000507804.1:n.*1263dup
ENST00000684264.1:n.1561dup
ENST00000684407.1:c.1882dup	ENSP00000507775.1:p.Arg628LysfsTer?
ENST00000684458.1:c.*491dup	ENSP00000508260.1:n.*491dup
ENST00000684468.1:n.1717dup
ENST00000391945.10:c.2005dup MANE Select	ENSP00000375809.4:p.Arg669LysfsTer?
ENST00000646507.1:n.2102dup
ENST00000391941.6:c.1933dup	ENSP00000375805.2:p.Arg645LysfsTer?
ENST00000391942.6:n.1176dup
ENST00000391944.7:c.1771dup	ENSP00000375808.3:p.Arg591LysfsTer?
ENST00000391945.8:c.2005dup	ENSP00000375809.3:p.Arg669LysfsTer?
ENST00000588652.5:n.2093dup
NM_000400.3:c.2005dup , LRG_461t1:c.2005dup	NP_000391.1:p.Arg669LysfsTer?
XM_011526611.1:c.1927dup	XP_011524913.1:p.Arg643LysfsTer?
XM_011526611.2:c.1927dup	XP_011524913.1:p.Arg643LysfsTer?
XM_017026467.1:c.1882dup	XP_016881956.1:p.Arg628LysfsTer?
XR_001753633.2:n.2052dup
XR_001753634.2:n.1988dup
NM_000400.4:c.2005dup MANE Select	NP_000391.1:p.Arg669LysfsTer?