Canonical Allele Identifier: CA2842237569

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352303dup , CM000681.2:g.45352303dup	GRCh38
NC_000019.9:g.45855561dup , CM000681.1:g.45855561dup	GRCh37
NC_000019.8:g.50547401dup	NCBI36
NG_007067.2:g.23285dup , LRG_461:g.23285dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2096dup	ENSP00000375808.4:p.His700AlafsTer?
ENST00000682414.1:c.2096dup	ENSP00000507019.1:p.His700AlafsTer?
ENST00000682508.1:n.2125dup
ENST00000684218.1:c.*1354dup	ENSP00000507804.1:n.*1354dup
ENST00000684264.1:n.1652dup
ENST00000684407.1:c.1973dup	ENSP00000507775.1:p.His659AlafsTer?
ENST00000684458.1:c.*582dup	ENSP00000508260.1:n.*582dup
ENST00000684468.1:n.1808dup
ENST00000391945.10:c.2096dup MANE Select	ENSP00000375809.4:p.His700AlafsTer?
ENST00000646507.1:n.2193dup
ENST00000391941.6:c.2024dup	ENSP00000375805.2:p.His676AlafsTer?
ENST00000391942.6:n.1267dup
ENST00000391944.7:c.1862dup	ENSP00000375808.3:p.His622AlafsTer?
ENST00000391945.8:c.2096dup	ENSP00000375809.3:p.His700AlafsTer?
ENST00000588652.5:n.2184dup
NM_000400.3:c.2096dup , LRG_461t1:c.2096dup	NP_000391.1:p.His700AlafsTer?
XM_011526611.1:c.2018dup	XP_011524913.1:p.His674AlafsTer?
XM_011526611.2:c.2018dup	XP_011524913.1:p.His674AlafsTer?
XM_017026467.1:c.1973dup	XP_016881956.1:p.His659AlafsTer?
XR_001753633.2:n.2143dup
XR_001753634.2:n.2079dup
NM_000400.4:c.2096dup MANE Select	NP_000391.1:p.His700AlafsTer?