Canonical Allele Identifier: CA2338388484
Gene: ERCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352002_45352011delinsCCGTGCCTGG , CM000681.2:g.45352002_45352011delinsCCGTGCCTGG GRCh38
NC_000019.9:g.45855260_45855269delinsCCGTGCCTGG , CM000681.1:g.45855260_45855269delinsCCGTGCCTGG GRCh37
NC_000019.8:g.50547100_50547109delinsCCGTGCCTGG NCBI36
NG_007067.2:g.23577_23586delinsCCAGGCACGG , LRG_461:g.23577_23586delinsCCAGGCACGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000391944.8:c.2388_2397delinsCCAGGCACGG ENSP00000375808.4:p.Ala796=
ENST00000682414.1:c.2190+198_2190+207delinsCCAGGCACGG ENSP00000507019.1:n.2190+198_2190+207delinsCCAGGCACGG
ENST00000682508.1:n.2219+198_2219+207delinsCCAGGCACGG
ENST00000684218.1:c.*1448+198_*1448+207delinsCCAGGCACGG ENSP00000507804.1:n.*1448+198_*1448+207delinsCCAGGCACGG
ENST00000684264.1:n.1746+198_1746+207delinsCCAGGCACGG
ENST00000684407.1:c.2067+198_2067+207delinsCCAGGCACGG ENSP00000507775.1:n.2067+198_2067+207delinsCCAGGCACGG
ENST00000684458.1:c.*676+198_*676+207delinsCCAGGCACGG ENSP00000508260.1:n.*676+198_*676+207delinsCCAGGCACGG
ENST00000684468.1:n.1902+198_1902+207delinsCCAGGCACGG
ENST00000391945.10:c.2190+198_2190+207delinsCCAGGCACGG MANE Select ENSP00000375809.4:n.2190+198_2190+207delinsCCAGGCACGG
ENST00000646507.1:n.2287+198_2287+207delinsCCAGGCACGG
ENST00000391942.6:n.1361+198_1361+207delinsCCAGGCACGG
ENST00000391944.7:c.1956+198_1956+207delinsCCAGGCACGG ENSP00000375808.3:n.1956+198_1956+207delinsCCAGGCACGG
ENST00000391945.8:c.2190+198_2190+207delinsCCAGGCACGG ENSP00000375809.3:n.2190+198_2190+207delinsCCAGGCACGG
ENST00000588652.5:n.2278+198_2278+207delinsCCAGGCACGG
NM_000400.3:c.2190+198_2190+207delinsCCAGGCACGG , LRG_461t1:c.2190+198_2190+207delinsCCAGGCACGG NP_000391.1:n.2190+198_2190+207delinsCCAGGCACGG
XM_011526611.1:c.2112+198_2112+207delinsCCAGGCACGG XP_011524913.1:n.2112+198_2112+207delinsCCAGGCACGG
XM_011526611.2:c.2112+198_2112+207delinsCCAGGCACGG XP_011524913.1:n.2112+198_2112+207delinsCCAGGCACGG
XM_017026467.1:c.2067+198_2067+207delinsCCAGGCACGG XP_016881956.1:n.2067+198_2067+207delinsCCAGGCACGG
XR_001753633.2:n.2237+198_2237+207delinsCCAGGCACGG
XR_001753634.2:n.2173+198_2173+207delinsCCAGGCACGG
NM_000400.4:c.2190+198_2190+207delinsCCAGGCACGG MANE Select NP_000391.1:n.2190+198_2190+207delinsCCAGGCACGG