Canonical Allele Identifier: CA2580097403

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 2088636
• ClinVar RCV Id: RCV003011739

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352497_45352511delinsTGCTCAT , CM000681.2:g.45352497_45352511delinsTGCTCAT	GRCh38
NC_000019.9:g.45855755_45855769delinsTGCTCAT , CM000681.1:g.45855755_45855769delinsTGCTCAT	GRCh37
NC_000019.8:g.50547595_50547609delinsTGCTCAT	NCBI36
NG_007067.2:g.23077_23091delinsATGAGCA , LRG_461:g.23077_23091delinsATGAGCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2041_2046+9delinsATGAGCA
ENST00000682414.1:c.2041_2046+9delinsATGAGCA
ENST00000682508.1:n.2070_2075+9delinsATGAGCA
ENST00000684218.1:c.*1299_*1304+9delinsATGAGCA
ENST00000684264.1:n.1597_1602+9delinsATGAGCA
ENST00000684407.1:c.1918_1923+9delinsATGAGCA
ENST00000684458.1:c.*527_*532+9delinsATGAGCA
ENST00000684468.1:n.1753_1758+9delinsATGAGCA
ENST00000391945.10:c.2041_2046+9delinsATGAGCA
ENST00000646507.1:n.2138_2143+9delinsATGAGCA
ENST00000391941.6:c.1969_1974+9delinsATGAGCA
ENST00000391942.6:n.1212_1217+9delinsATGAGCA
ENST00000391944.7:c.1807_1812+9delinsATGAGCA
ENST00000391945.8:c.2041_2046+9delinsATGAGCA
ENST00000588652.5:n.2129_2134+9delinsATGAGCA
NM_000400.3:c.2041_2046+9delinsATGAGCA , LRG_461t1:c.2041_2046+9delinsATGAGCA
XM_011526611.1:c.1963_1968+9delinsATGAGCA
XM_011526611.2:c.1963_1968+9delinsATGAGCA
XM_017026467.1:c.1918_1923+9delinsATGAGCA
XR_001753633.2:n.2088_2093+9delinsATGAGCA
XR_001753634.2:n.2024_2029+9delinsATGAGCA
NM_000400.4:c.2041_2046+9delinsATGAGCA