Canonical Allele Identifier: CA2338388921

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352595_45352598delinsTAAG , CM000681.2:g.45352595_45352598delinsTAAG	GRCh38
NC_000019.9:g.45855853_45855856delinsTAAG , CM000681.1:g.45855853_45855856delinsTAAG	GRCh37
NC_000019.8:g.50547693_50547696delinsTAAG	NCBI36
NG_007067.2:g.22990_22993delinsCTTA , LRG_461:g.22990_22993delinsCTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1954_1957delinsCTTA	ENSP00000375808.4:p.Leu652=
ENST00000682414.1:c.1954_1957delinsCTTA	ENSP00000507019.1:p.Leu652=
ENST00000682508.1:n.1983_1986delinsCTTA
ENST00000684218.1:c.*1212_*1215delinsCTTA	ENSP00000507804.1:n.*1212_*1215delinsCTTA
ENST00000684264.1:n.1510_1513delinsCTTA
ENST00000684407.1:c.1831_1834delinsCTTA	ENSP00000507775.1:p.Leu611=
ENST00000684458.1:c.*440_*443delinsCTTA	ENSP00000508260.1:n.*440_*443delinsCTTA
ENST00000684468.1:n.1666_1669delinsCTTA
ENST00000391945.10:c.1954_1957delinsCTTA MANE Select	ENSP00000375809.4:p.Leu652=
ENST00000646507.1:n.2051_2054delinsCTTA
ENST00000391941.6:c.1882_1885delinsCTTA	ENSP00000375805.2:p.Leu628=
ENST00000391942.6:n.1125_1128delinsCTTA
ENST00000391944.7:c.1720_1723delinsCTTA	ENSP00000375808.3:p.Leu574=
ENST00000391945.8:c.1954_1957delinsCTTA	ENSP00000375809.3:p.Leu652=
ENST00000588652.5:n.2042_2045delinsCTTA
NM_000400.3:c.1954_1957delinsCTTA , LRG_461t1:c.1954_1957delinsCTTA	NP_000391.1:p.Leu652=
XM_011526611.1:c.1876_1879delinsCTTA	XP_011524913.1:p.Leu626=
XM_011526611.2:c.1876_1879delinsCTTA	XP_011524913.1:p.Leu626=
XM_017026467.1:c.1831_1834delinsCTTA	XP_016881956.1:p.Leu611=
XR_001753633.2:n.2001_2004delinsCTTA
XR_001753634.2:n.1937_1940delinsCTTA
NM_000400.4:c.1954_1957delinsCTTA MANE Select	NP_000391.1:p.Leu652=