Canonical Allele Identifier: CA2338388881

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352542_45352543delinsGC , CM000681.2:g.45352542_45352543delinsGC	GRCh38
NC_000019.9:g.45855800_45855801delinsGC , CM000681.1:g.45855800_45855801delinsGC	GRCh37
NC_000019.8:g.50547640_50547641delinsGC	NCBI36
NG_007067.2:g.23045_23046delinsGC , LRG_461:g.23045_23046delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2009_2010delinsGC	ENSP00000375808.4:p.Gly670=
ENST00000682414.1:c.2009_2010delinsGC	ENSP00000507019.1:p.Gly670=
ENST00000682508.1:n.2038_2039delinsGC
ENST00000684218.1:c.*1267_*1268delinsGC	ENSP00000507804.1:n.*1267_*1268delinsGC
ENST00000684264.1:n.1565_1566delinsGC
ENST00000684407.1:c.1886_1887delinsGC	ENSP00000507775.1:p.Gly629=
ENST00000684458.1:c.*495_*496delinsGC	ENSP00000508260.1:n.*495_*496delinsGC
ENST00000684468.1:n.1721_1722delinsGC
ENST00000391945.10:c.2009_2010delinsGC MANE Select	ENSP00000375809.4:p.Gly670=
ENST00000646507.1:n.2106_2107delinsGC
ENST00000391941.6:c.1937_1938delinsGC	ENSP00000375805.2:p.Gly646=
ENST00000391942.6:n.1180_1181delinsGC
ENST00000391944.7:c.1775_1776delinsGC	ENSP00000375808.3:p.Gly592=
ENST00000391945.8:c.2009_2010delinsGC	ENSP00000375809.3:p.Gly670=
ENST00000588652.5:n.2097_2098delinsGC
NM_000400.3:c.2009_2010delinsGC , LRG_461t1:c.2009_2010delinsGC	NP_000391.1:p.Gly670=
XM_011526611.1:c.1931_1932delinsGC	XP_011524913.1:p.Gly644=
XM_011526611.2:c.1931_1932delinsGC	XP_011524913.1:p.Gly644=
XM_017026467.1:c.1886_1887delinsGC	XP_016881956.1:p.Gly629=
XR_001753633.2:n.2056_2057delinsGC
XR_001753634.2:n.1992_1993delinsGC
NM_000400.4:c.2009_2010delinsGC MANE Select	NP_000391.1:p.Gly670=