Canonical Allele Identifier: CA996294370

Gene: ERCC2

Linked Data - Sequence & Population

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45351660_45351661insGCAGCG , CM000681.2:g.45351660_45351661insGCAGCG	GRCh38
NC_000019.9:g.45854918_45854919insGCAGCG , CM000681.1:g.45854918_45854919insGCAGCG	GRCh37
NC_000019.8:g.50546758_50546759insGCAGCG	NCBI36
NG_007067.2:g.23927_23928insCGCTGC , LRG_461:g.23927_23928insCGCTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.*248_*249insCGCTGC	ENSP00000375808.4:n.*248_*249insCGCTGC
ENST00000682414.1:c.2251_2252insCGCTGC	ENSP00000507019.1:p.Lys751delinsThrLeuGln
ENST00000682508.1:n.2280_2281insCGCTGC
ENST00000684218.1:c.*1509_*1510insCGCTGC	ENSP00000507804.1:n.*1509_*1510insCGCTGC
ENST00000684264.1:n.1807_1808insCGCTGC
ENST00000684407.1:c.2128_2129insCGCTGC	ENSP00000507775.1:p.Lys710delinsThrLeuGln
ENST00000684458.1:c.*737_*738insCGCTGC	ENSP00000508260.1:n.*737_*738insCGCTGC
ENST00000684468.1:n.1963_1964insCGCTGC
ENST00000391945.10:c.2251_2252insCGCTGC MANE Select	ENSP00000375809.4:p.Lys751delinsThrLeuGln
ENST00000646507.1:n.2348_2349insCGCTGC
ENST00000391942.6:n.1422_1423insCGCTGC
ENST00000391944.7:c.2017_2018insCGCTGC	ENSP00000375808.3:p.Lys673delinsThrLeuGln
ENST00000391945.8:c.2251_2252insCGCTGC	ENSP00000375809.3:p.Lys751delinsThrLeuGln
ENST00000588652.5:n.2339_2340insCGCTGC
NM_000400.3:c.2251_2252insCGCTGC , LRG_461t1:c.2251_2252insCGCTGC	NP_000391.1:p.Lys751delinsThrLeuGln
XM_011526611.1:c.2173_2174insCGCTGC	XP_011524913.1:p.Lys725delinsThrLeuGln
XM_011526611.2:c.2173_2174insCGCTGC	XP_011524913.1:p.Lys725delinsThrLeuGln
XM_017026467.1:c.2128_2129insCGCTGC	XP_016881956.1:p.Lys710delinsThrLeuGln
XR_001753633.2:n.2298_2299insCGCTGC
NM_000400.4:c.2251_2252insCGCTGC MANE Select	NP_000391.1:p.Lys751delinsThrLeuGln