Canonical Allele Identifier: CA2840377883

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45357283dup , CM000681.2:g.45357283dup	GRCh38
NC_000019.9:g.45860541dup , CM000681.1:g.45860541dup	GRCh37
NC_000019.8:g.50552381dup	NCBI36
NG_007067.2:g.18305dup , LRG_461:g.18305dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1466dup	ENSP00000375808.4:p.Cys489TrpfsTer12
ENST00000682414.1:c.1466dup	ENSP00000507019.1:p.Cys489TrpfsTer12
ENST00000682508.1:n.1495dup
ENST00000684218.1:c.*724dup	ENSP00000507804.1:n.*724dup
ENST00000684264.1:n.1022dup
ENST00000684407.1:c.1343dup	ENSP00000507775.1:p.Cys448TrpfsTer12
ENST00000684458.1:c.*16dup	ENSP00000508260.1:n.*16dup
ENST00000684468.1:n.1242dup
ENST00000391945.10:c.1466dup MANE Select	ENSP00000375809.4:p.Cys489TrpfsTer12
ENST00000587376.6:c.589dup
ENST00000646507.1:n.1563dup
ENST00000391941.6:c.1394dup	ENSP00000375805.2:p.Cys465TrpfsTer12
ENST00000391942.6:n.637dup
ENST00000391944.7:c.1232dup	ENSP00000375808.3:p.Cys411TrpfsTer12
ENST00000391945.8:c.1466dup	ENSP00000375809.3:p.Cys489TrpfsTer12
ENST00000587376.5:c.589dup
ENST00000588652.5:n.1554dup
NM_000400.3:c.1466dup , LRG_461t1:c.1466dup	NP_000391.1:p.Cys489TrpfsTer12
XM_011526611.1:c.1388dup	XP_011524913.1:p.Cys463TrpfsTer12
XR_935763.1:n.1513dup
XM_011526611.2:c.1388dup	XP_011524913.1:p.Cys463TrpfsTer12
XM_017026467.1:c.1343dup	XP_016881956.1:p.Cys448TrpfsTer12
XR_001753633.2:n.1513dup
XR_001753634.2:n.1513dup
NM_000400.4:c.1466dup MANE Select	NP_000391.1:p.Cys489TrpfsTer12