Canonical Allele Identifier: CA2840552615

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364068dup , CM000681.2:g.45364068dup	GRCh38
NC_000019.9:g.45867326dup , CM000681.1:g.45867326dup	GRCh37
NC_000019.8:g.50559166dup	NCBI36
NG_007067.2:g.11521dup , LRG_461:g.11521dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.868dup	ENSP00000375808.4:p.Glu290GlyfsTer?
ENST00000682414.1:c.868dup	ENSP00000507019.1:p.Glu290GlyfsTer?
ENST00000682508.1:n.897dup
ENST00000684218.1:c.*126dup	ENSP00000507804.1:n.*126dup
ENST00000684407.1:c.745dup	ENSP00000507775.1:p.Glu249GlyfsTer?
ENST00000684458.1:c.868dup	ENSP00000508260.1:p.Glu290GlyfsTer?
ENST00000391945.10:c.868dup MANE Select	ENSP00000375809.4:p.Glu290GlyfsTer?
ENST00000586131.6:c.796dup	ENSP00000464887.1:p.Glu266GlyfsTer?
ENST00000646507.1:n.965dup
ENST00000391941.6:c.796dup	ENSP00000375805.2:p.Glu266GlyfsTer?
ENST00000391944.7:c.634dup	ENSP00000375808.3:p.Glu212GlyfsTer?
ENST00000391945.8:c.868dup	ENSP00000375809.3:p.Glu290GlyfsTer?
ENST00000485403.6:c.796dup	ENSP00000431229.2:p.Glu266GlyfsTer?
ENST00000586131.5:c.796dup	ENSP00000464887.1:p.Glu266GlyfsTer?
ENST00000591309.5:c.*126dup	ENSP00000465207.1:n.*126dup
NM_000400.3:c.868dup , LRG_461t1:c.868dup	NP_000391.1:p.Glu290GlyfsTer?
NM_001130867.1:c.796dup	NP_001124339.1:p.Glu266GlyfsTer?
XM_011526611.1:c.790dup	XP_011524913.1:p.Glu264GlyfsTer?
XR_935763.1:n.915dup
XM_011526611.2:c.790dup	XP_011524913.1:p.Glu264GlyfsTer?
XM_017026467.1:c.745dup	XP_016881956.1:p.Glu249GlyfsTer?
XR_001753633.2:n.915dup
XR_001753634.2:n.915dup
NM_000400.4:c.868dup MANE Select	NP_000391.1:p.Glu290GlyfsTer?
NM_001130867.2:c.796dup	NP_001124339.1:p.Glu266GlyfsTer?