Canonical Allele Identifier: CA2338388858
Gene: ERCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352504_45352527delinsACCTTGTCGGCAAAGACCATGAGG , CM000681.2:g.45352504_45352527delinsACCTTGTCGGCAAAGACCATGAGG GRCh38
NC_000019.9:g.45855762_45855785delinsACCTTGTCGGCAAAGACCATGAGG , CM000681.1:g.45855762_45855785delinsACCTTGTCGGCAAAGACCATGAGG GRCh37
NC_000019.8:g.50547602_50547625delinsACCTTGTCGGCAAAGACCATGAGG NCBI36
NG_007067.2:g.23061_23084delinsCCTCATGGTCTTTGCCGACAAGGT , LRG_461:g.23061_23084delinsCCTCATGGTCTTTGCCGACAAGGT

Transcript Alleles

HGVS Amino-acid change
ENST00000391944.8:c.2025_2046+2delinsCCTCATGGTCTTTGCCGACAAGGT
ENST00000682414.1:c.2025_2046+2delinsCCTCATGGTCTTTGCCGACAAGGT
ENST00000682508.1:n.2054_2075+2delinsCCTCATGGTCTTTGCCGACAAGGT
ENST00000684218.1:c.*1283_*1304+2delinsCCTCATGGTCTTTGCCGACAAGGT
ENST00000684264.1:n.1581_1602+2delinsCCTCATGGTCTTTGCCGACAAGGT
ENST00000684407.1:c.1902_1923+2delinsCCTCATGGTCTTTGCCGACAAGGT
ENST00000684458.1:c.*511_*532+2delinsCCTCATGGTCTTTGCCGACAAGGT
ENST00000684468.1:n.1737_1758+2delinsCCTCATGGTCTTTGCCGACAAGGT
ENST00000391945.10:c.2025_2046+2delinsCCTCATGGTCTTTGCCGACAAGGT
ENST00000646507.1:n.2122_2143+2delinsCCTCATGGTCTTTGCCGACAAGGT
ENST00000391941.6:c.1953_1974+2delinsCCTCATGGTCTTTGCCGACAAGGT
ENST00000391942.6:n.1196_1217+2delinsCCTCATGGTCTTTGCCGACAAGGT
ENST00000391944.7:c.1791_1812+2delinsCCTCATGGTCTTTGCCGACAAGGT
ENST00000391945.8:c.2025_2046+2delinsCCTCATGGTCTTTGCCGACAAGGT
ENST00000588652.5:n.2113_2134+2delinsCCTCATGGTCTTTGCCGACAAGGT
NM_000400.3:c.2025_2046+2delinsCCTCATGGTCTTTGCCGACAAGGT , LRG_461t1:c.2025_2046+2delinsCCTCATGGTCTTTGCCGACAAGGT
XM_011526611.1:c.1947_1968+2delinsCCTCATGGTCTTTGCCGACAAGGT
XM_011526611.2:c.1947_1968+2delinsCCTCATGGTCTTTGCCGACAAGGT
XM_017026467.1:c.1902_1923+2delinsCCTCATGGTCTTTGCCGACAAGGT
XR_001753633.2:n.2072_2093+2delinsCCTCATGGTCTTTGCCGACAAGGT
XR_001753634.2:n.2008_2029+2delinsCCTCATGGTCTTTGCCGACAAGGT
NM_000400.4:c.2025_2046+2delinsCCTCATGGTCTTTGCCGACAAGGT