Canonical Allele Identifier: CA2585788657

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45364094-G-GAGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364094_45364095insAGCA , CM000681.2:g.45364094_45364095insAGCA	GRCh38
NC_000019.9:g.45867352_45867353insAGCA , CM000681.1:g.45867352_45867353insAGCA	GRCh37
NC_000019.8:g.50559192_50559193insAGCA	NCBI36
NG_007067.2:g.11493_11494insTGCT , LRG_461:g.11493_11494insTGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.840_841insTGCT	ENSP00000375808.4:p.Leu281CysfsTer?
ENST00000682414.1:c.840_841insTGCT	ENSP00000507019.1:p.Leu281CysfsTer?
ENST00000682508.1:n.869_870insTGCT
ENST00000684218.1:c.*98_*99insTGCT	ENSP00000507804.1:n.*98_*99insTGCT
ENST00000684407.1:c.717_718insTGCT	ENSP00000507775.1:p.Leu240CysfsTer?
ENST00000684458.1:c.840_841insTGCT	ENSP00000508260.1:p.Leu281CysfsTer?
ENST00000391945.10:c.840_841insTGCT MANE Select	ENSP00000375809.4:p.Leu281CysfsTer?
ENST00000586131.6:c.768_769insTGCT	ENSP00000464887.1:p.Leu257CysfsTer?
ENST00000646507.1:n.937_938insTGCT
ENST00000391941.6:c.768_769insTGCT	ENSP00000375805.2:p.Leu257CysfsTer?
ENST00000391944.7:c.606_607insTGCT	ENSP00000375808.3:p.Leu203CysfsTer?
ENST00000391945.8:c.840_841insTGCT	ENSP00000375809.3:p.Leu281CysfsTer?
ENST00000485403.6:c.768_769insTGCT	ENSP00000431229.2:p.Leu257CysfsTer?
ENST00000586131.5:c.768_769insTGCT	ENSP00000464887.1:p.Leu257CysfsTer?
ENST00000586737.5:n.477_478insTGCT
ENST00000591309.5:c.*98_*99insTGCT	ENSP00000465207.1:n.*98_*99insTGCT
NM_000400.3:c.840_841insTGCT , LRG_461t1:c.840_841insTGCT	NP_000391.1:p.Leu281CysfsTer?
NM_001130867.1:c.768_769insTGCT	NP_001124339.1:p.Leu257CysfsTer?
XM_011526611.1:c.762_763insTGCT	XP_011524913.1:p.Leu255CysfsTer?
XR_935763.1:n.887_888insTGCT
XM_011526611.2:c.762_763insTGCT	XP_011524913.1:p.Leu255CysfsTer?
XM_017026467.1:c.717_718insTGCT	XP_016881956.1:p.Leu240CysfsTer?
XR_001753633.2:n.887_888insTGCT
XR_001753634.2:n.887_888insTGCT
NM_000400.4:c.840_841insTGCT MANE Select	NP_000391.1:p.Leu281CysfsTer?
NM_001130867.2:c.768_769insTGCT	NP_001124339.1:p.Leu257CysfsTer?