Canonical Allele Identifier: CA2842237584

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352578dup , CM000681.2:g.45352578dup	GRCh38
NC_000019.9:g.45855836dup , CM000681.1:g.45855836dup	GRCh37
NC_000019.8:g.50547676dup	NCBI36
NG_007067.2:g.23011dup , LRG_461:g.23011dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1975dup	ENSP00000375808.4:p.His659ProfsTer?
ENST00000682414.1:c.1975dup	ENSP00000507019.1:p.His659ProfsTer?
ENST00000682508.1:n.2004dup
ENST00000684218.1:c.*1233dup	ENSP00000507804.1:n.*1233dup
ENST00000684264.1:n.1531dup
ENST00000684407.1:c.1852dup	ENSP00000507775.1:p.His618ProfsTer?
ENST00000684458.1:c.*461dup	ENSP00000508260.1:n.*461dup
ENST00000684468.1:n.1687dup
ENST00000391945.10:c.1975dup MANE Select	ENSP00000375809.4:p.His659ProfsTer?
ENST00000646507.1:n.2072dup
ENST00000391941.6:c.1903dup	ENSP00000375805.2:p.His635ProfsTer?
ENST00000391942.6:n.1146dup
ENST00000391944.7:c.1741dup	ENSP00000375808.3:p.His581ProfsTer?
ENST00000391945.8:c.1975dup	ENSP00000375809.3:p.His659ProfsTer?
ENST00000588652.5:n.2063dup
NM_000400.3:c.1975dup , LRG_461t1:c.1975dup	NP_000391.1:p.His659ProfsTer?
XM_011526611.1:c.1897dup	XP_011524913.1:p.His633ProfsTer?
XM_011526611.2:c.1897dup	XP_011524913.1:p.His633ProfsTer?
XM_017026467.1:c.1852dup	XP_016881956.1:p.His618ProfsTer?
XR_001753633.2:n.2022dup
XR_001753634.2:n.1958dup
NM_000400.4:c.1975dup MANE Select	NP_000391.1:p.His659ProfsTer?