Canonical Allele Identifier: CA2338389074
Gene: ERCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352831_45352839delinsAGAGGGGGC , CM000681.2:g.45352831_45352839delinsAGAGGGGGC GRCh38
NC_000019.9:g.45856089_45856097delinsAGAGGGGGC , CM000681.1:g.45856089_45856097delinsAGAGGGGGC GRCh37
NC_000019.8:g.50547929_50547937delinsAGAGGGGGC NCBI36
NG_007067.2:g.22749_22757delinsGCCCCCTCT , LRG_461:g.22749_22757delinsGCCCCCTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000391944.8:c.1832-23_1832-15delinsGCCCCCTCT ENSP00000375808.4:n.1832-23_1832-15delinsGCCCCCTCT
ENST00000682414.1:c.1832-23_1832-15delinsGCCCCCTCT ENSP00000507019.1:n.1832-23_1832-15delinsGCCCCCTCT
ENST00000682508.1:n.1861-23_1861-15delinsGCCCCCTCT
ENST00000684218.1:c.*1090-23_*1090-15delinsGCCCCCTCT ENSP00000507804.1:n.*1090-23_*1090-15delinsGCCCCCTCT
ENST00000684264.1:n.1388-23_1388-15delinsGCCCCCTCT
ENST00000684407.1:c.1709-23_1709-15delinsGCCCCCTCT ENSP00000507775.1:n.1709-23_1709-15delinsGCCCCCTCT
ENST00000684458.1:c.*318-23_*318-15delinsGCCCCCTCT ENSP00000508260.1:n.*318-23_*318-15delinsGCCCCCTCT
ENST00000684468.1:n.1544-23_1544-15delinsGCCCCCTCT
ENST00000391945.10:c.1832-23_1832-15delinsGCCCCCTCT MANE Select ENSP00000375809.4:n.1832-23_1832-15delinsGCCCCCTCT
ENST00000646507.1:n.1929-23_1929-15delinsGCCCCCTCT
ENST00000391941.6:c.1760-23_1760-15delinsGCCCCCTCT ENSP00000375805.2:n.1760-23_1760-15delinsGCCCCCTCT
ENST00000391942.6:n.1003-23_1003-15delinsGCCCCCTCT
ENST00000391944.7:c.1598-23_1598-15delinsGCCCCCTCT ENSP00000375808.3:n.1598-23_1598-15delinsGCCCCCTCT
ENST00000391945.8:c.1832-23_1832-15delinsGCCCCCTCT ENSP00000375809.3:n.1832-23_1832-15delinsGCCCCCTCT
ENST00000588652.5:n.1920-23_1920-15delinsGCCCCCTCT
NM_000400.3:c.1832-23_1832-15delinsGCCCCCTCT , LRG_461t1:c.1832-23_1832-15delinsGCCCCCTCT NP_000391.1:n.1832-23_1832-15delinsGCCCCCTCT
XM_011526611.1:c.1754-23_1754-15delinsGCCCCCTCT XP_011524913.1:n.1754-23_1754-15delinsGCCCCCTCT
XM_011526611.2:c.1754-23_1754-15delinsGCCCCCTCT XP_011524913.1:n.1754-23_1754-15delinsGCCCCCTCT
XM_017026467.1:c.1709-23_1709-15delinsGCCCCCTCT XP_016881956.1:n.1709-23_1709-15delinsGCCCCCTCT
XR_001753633.2:n.1879-23_1879-15delinsGCCCCCTCT
XR_001753634.2:n.1815-23_1815-15delinsGCCCCCTCT
NM_000400.4:c.1832-23_1832-15delinsGCCCCCTCT MANE Select NP_000391.1:n.1832-23_1832-15delinsGCCCCCTCT