Canonical Allele Identifier: CA2840552611

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364014dup , CM000681.2:g.45364014dup	GRCh38
NC_000019.9:g.45867272dup , CM000681.1:g.45867272dup	GRCh37
NC_000019.8:g.50559112dup	NCBI36
NG_007067.2:g.11577dup , LRG_461:g.11577dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.924dup	ENSP00000375808.4:p.Val309ArgfsTer?
ENST00000682414.1:c.924dup	ENSP00000507019.1:p.Val309ArgfsTer?
ENST00000682508.1:n.953dup
ENST00000684218.1:c.*182dup	ENSP00000507804.1:n.*182dup
ENST00000684407.1:c.801dup	ENSP00000507775.1:p.Val268ArgfsTer?
ENST00000684458.1:c.924dup	ENSP00000508260.1:p.Val309ArgfsTer?
ENST00000391945.10:c.924dup MANE Select	ENSP00000375809.4:p.Val309ArgfsTer?
ENST00000586131.6:c.852dup	ENSP00000464887.1:p.Val285ArgfsTer?
ENST00000587376.6:c.47dup
ENST00000646507.1:n.1021dup
ENST00000391941.6:c.852dup	ENSP00000375805.2:p.Val285ArgfsTer?
ENST00000391944.7:c.690dup	ENSP00000375808.3:p.Val231ArgfsTer?
ENST00000391945.8:c.924dup	ENSP00000375809.3:p.Val309ArgfsTer?
ENST00000485403.6:c.852dup	ENSP00000431229.2:p.Val285ArgfsTer?
ENST00000586131.5:c.852dup	ENSP00000464887.1:p.Val285ArgfsTer?
ENST00000587376.5:c.47dup
NM_000400.3:c.924dup , LRG_461t1:c.924dup	NP_000391.1:p.Val309ArgfsTer?
NM_001130867.1:c.852dup	NP_001124339.1:p.Val285ArgfsTer?
XM_011526611.1:c.846dup	XP_011524913.1:p.Val283ArgfsTer?
XR_935763.1:n.971dup
XM_011526611.2:c.846dup	XP_011524913.1:p.Val283ArgfsTer?
XM_017026467.1:c.801dup	XP_016881956.1:p.Val268ArgfsTer?
XR_001753633.2:n.971dup
XR_001753634.2:n.971dup
NM_000400.4:c.924dup MANE Select	NP_000391.1:p.Val309ArgfsTer?
NM_001130867.2:c.852dup	NP_001124339.1:p.Val285ArgfsTer?