Canonical Allele Identifier: CA2338388917

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352592_45352593delinsAG , CM000681.2:g.45352592_45352593delinsAG	GRCh38
NC_000019.9:g.45855850_45855851delinsAG , CM000681.1:g.45855850_45855851delinsAG	GRCh37
NC_000019.8:g.50547690_50547691delinsAG	NCBI36
NG_007067.2:g.22995_22996delinsCT , LRG_461:g.22995_22996delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1959_1960delinsCT	ENSP00000375808.4:p.Thr653=
ENST00000682414.1:c.1959_1960delinsCT	ENSP00000507019.1:p.Thr653=
ENST00000682508.1:n.1988_1989delinsCT
ENST00000684218.1:c.*1217_*1218delinsCT	ENSP00000507804.1:n.*1217_*1218delinsCT
ENST00000684264.1:n.1515_1516delinsCT
ENST00000684407.1:c.1836_1837delinsCT	ENSP00000507775.1:p.Thr612=
ENST00000684458.1:c.*445_*446delinsCT	ENSP00000508260.1:n.*445_*446delinsCT
ENST00000684468.1:n.1671_1672delinsCT
ENST00000391945.10:c.1959_1960delinsCT MANE Select	ENSP00000375809.4:p.Thr653=
ENST00000646507.1:n.2056_2057delinsCT
ENST00000391941.6:c.1887_1888delinsCT	ENSP00000375805.2:p.Thr629=
ENST00000391942.6:n.1130_1131delinsCT
ENST00000391944.7:c.1725_1726delinsCT	ENSP00000375808.3:p.Thr575=
ENST00000391945.8:c.1959_1960delinsCT	ENSP00000375809.3:p.Thr653=
ENST00000588652.5:n.2047_2048delinsCT
NM_000400.3:c.1959_1960delinsCT , LRG_461t1:c.1959_1960delinsCT	NP_000391.1:p.Thr653=
XM_011526611.1:c.1881_1882delinsCT	XP_011524913.1:p.Thr627=
XM_011526611.2:c.1881_1882delinsCT	XP_011524913.1:p.Thr627=
XM_017026467.1:c.1836_1837delinsCT	XP_016881956.1:p.Thr612=
XR_001753633.2:n.2006_2007delinsCT
XR_001753634.2:n.1942_1943delinsCT
NM_000400.4:c.1959_1960delinsCT MANE Select	NP_000391.1:p.Thr653=