Canonical Allele Identifier: CA2838990430

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352352dup , CM000681.2:g.45352352dup	GRCh38
NC_000019.9:g.45855610dup , CM000681.1:g.45855610dup	GRCh37
NC_000019.8:g.50547450dup	NCBI36
NG_007067.2:g.23236dup , LRG_461:g.23236dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2047dup	ENSP00000375808.4:p.Arg683ProfsTer?
ENST00000682414.1:c.2047dup	ENSP00000507019.1:p.Arg683ProfsTer?
ENST00000682508.1:n.2076dup
ENST00000684218.1:c.*1305dup	ENSP00000507804.1:n.*1305dup
ENST00000684264.1:n.1603dup
ENST00000684407.1:c.1924dup	ENSP00000507775.1:p.Arg642ProfsTer?
ENST00000684458.1:c.*533dup	ENSP00000508260.1:n.*533dup
ENST00000684468.1:n.1759dup
ENST00000391945.10:c.2047dup MANE Select	ENSP00000375809.4:p.Arg683ProfsTer?
ENST00000646507.1:n.2144dup
ENST00000391941.6:c.1975dup	ENSP00000375805.2:p.Arg659ProfsTer?
ENST00000391942.6:n.1218dup
ENST00000391944.7:c.1813dup	ENSP00000375808.3:p.Arg605ProfsTer?
ENST00000391945.8:c.2047dup	ENSP00000375809.3:p.Arg683ProfsTer?
ENST00000588652.5:n.2135dup
NM_000400.3:c.2047dup , LRG_461t1:c.2047dup	NP_000391.1:p.Arg683ProfsTer?
XM_011526611.1:c.1969dup	XP_011524913.1:p.Arg657ProfsTer?
XM_011526611.2:c.1969dup	XP_011524913.1:p.Arg657ProfsTer?
XM_017026467.1:c.1924dup	XP_016881956.1:p.Arg642ProfsTer?
XR_001753633.2:n.2094dup
XR_001753634.2:n.2030dup
NM_000400.4:c.2047dup MANE Select	NP_000391.1:p.Arg683ProfsTer?