Canonical Allele Identifier: CA996295521

Gene: ERCC2

Linked Data

• gnomAD v3: 19-45352784-C-CGTATCATTA
• gnomAD v4: 19-45352784-C-CGTATCATTA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352784_45352785insGTATCATTA , CM000681.2:g.45352784_45352785insGTATCATTA	GRCh38
NC_000019.9:g.45856042_45856043insGTATCATTA , CM000681.1:g.45856042_45856043insGTATCATTA	GRCh37
NC_000019.8:g.50547882_50547883insGTATCATTA	NCBI36
NG_007067.2:g.22803_22804insTAATGATAC , LRG_461:g.22803_22804insTAATGATAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1863_1864insTAATGATAC
ENST00000682414.1:c.1863_1864insTAATGATAC
ENST00000682508.1:n.1892_1893insTAATGATAC
ENST00000684218.1:c.*1121_*1122insTAATGATAC	ENSP00000507804.1:n.*1121_*1122insTAATGATAC
ENST00000684264.1:n.1419_1420insTAATGATAC
ENST00000684407.1:c.1740_1741insTAATGATAC
ENST00000684458.1:c.*349_*350insTAATGATAC	ENSP00000508260.1:n.*349_*350insTAATGATAC
ENST00000684468.1:n.1575_1576insTAATGATAC
ENST00000391945.10:c.1863_1864insTAATGATAC
ENST00000646507.1:n.1960_1961insTAATGATAC
ENST00000391941.6:c.1791_1792insTAATGATAC
ENST00000391942.6:n.1034_1035insTAATGATAC
ENST00000391944.7:c.1629_1630insTAATGATAC
ENST00000391945.8:c.1863_1864insTAATGATAC
ENST00000588652.5:n.1951_1952insTAATGATAC
NM_000400.3:c.1863_1864insTAATGATAC , LRG_461t1:c.1863_1864insTAATGATAC
XM_011526611.1:c.1785_1786insTAATGATAC
XM_011526611.2:c.1785_1786insTAATGATAC
XM_017026467.1:c.1740_1741insTAATGATAC
XR_001753633.2:n.1910_1911insTAATGATAC
XR_001753634.2:n.1846_1847insTAATGATAC
NM_000400.4:c.1863_1864insTAATGATAC