Canonical Allele Identifier: CA2585785568

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352542-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352546dup , CM000681.2:g.45352546dup	GRCh38
NC_000019.9:g.45855804dup , CM000681.1:g.45855804dup	GRCh37
NC_000019.8:g.50547644dup	NCBI36
NG_007067.2:g.23045dup , LRG_461:g.23045dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2009dup	ENSP00000375808.4:p.Lys671GlnfsTer?
ENST00000682414.1:c.2009dup	ENSP00000507019.1:p.Lys671GlnfsTer?
ENST00000682508.1:n.2038dup
ENST00000684218.1:c.*1267dup	ENSP00000507804.1:n.*1267dup
ENST00000684264.1:n.1565dup
ENST00000684407.1:c.1886dup	ENSP00000507775.1:p.Lys630GlnfsTer?
ENST00000684458.1:c.*495dup	ENSP00000508260.1:n.*495dup
ENST00000684468.1:n.1721dup
ENST00000391945.10:c.2009dup MANE Select	ENSP00000375809.4:p.Lys671GlnfsTer?
ENST00000646507.1:n.2106dup
ENST00000391941.6:c.1937dup	ENSP00000375805.2:p.Lys647GlnfsTer?
ENST00000391942.6:n.1180dup
ENST00000391944.7:c.1775dup	ENSP00000375808.3:p.Lys593GlnfsTer?
ENST00000391945.8:c.2009dup	ENSP00000375809.3:p.Lys671GlnfsTer?
ENST00000588652.5:n.2097dup
NM_000400.3:c.2009dup , LRG_461t1:c.2009dup	NP_000391.1:p.Lys671GlnfsTer?
XM_011526611.1:c.1931dup	XP_011524913.1:p.Lys645GlnfsTer?
XM_011526611.2:c.1931dup	XP_011524913.1:p.Lys645GlnfsTer?
XM_017026467.1:c.1886dup	XP_016881956.1:p.Lys630GlnfsTer?
XR_001753633.2:n.2056dup
XR_001753634.2:n.1992dup
NM_000400.4:c.2009dup MANE Select	NP_000391.1:p.Lys671GlnfsTer?