Canonical Allele Identifier: CA2580097411

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 2007717
• ClinVar RCV Id: RCV002816405

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364071_45364083del , CM000681.2:g.45364071_45364083del	GRCh38
NC_000019.9:g.45867329_45867341del , CM000681.1:g.45867329_45867341del	GRCh37
NC_000019.8:g.50559169_50559181del	NCBI36
NG_007067.2:g.11507_11519del , LRG_461:g.11507_11519del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.854_866del	ENSP00000375808.4:p.Tyr285TrpfsTer?
ENST00000682414.1:c.854_866del	ENSP00000507019.1:p.Tyr285TrpfsTer?
ENST00000682508.1:n.883_895del
ENST00000684218.1:c.*112_*124del	ENSP00000507804.1:n.*112_*124del
ENST00000684407.1:c.731_743del	ENSP00000507775.1:p.Tyr244TrpfsTer?
ENST00000684458.1:c.854_866del	ENSP00000508260.1:p.Tyr285TrpfsTer?
ENST00000391945.10:c.854_866del MANE Select	ENSP00000375809.4:p.Tyr285TrpfsTer?
ENST00000586131.6:c.782_794del	ENSP00000464887.1:p.Tyr261TrpfsTer?
ENST00000646507.1:n.951_963del
ENST00000391941.6:c.782_794del	ENSP00000375805.2:p.Tyr261TrpfsTer?
ENST00000391944.7:c.620_632del	ENSP00000375808.3:p.Tyr207TrpfsTer?
ENST00000391945.8:c.854_866del	ENSP00000375809.3:p.Tyr285TrpfsTer?
ENST00000485403.6:c.782_794del	ENSP00000431229.2:p.Tyr261TrpfsTer?
ENST00000586131.5:c.782_794del	ENSP00000464887.1:p.Tyr261TrpfsTer?
ENST00000591309.5:c.*112_*124del	ENSP00000465207.1:n.*112_*124del
NM_000400.3:c.854_866del , LRG_461t1:c.854_866del	NP_000391.1:p.Tyr285TrpfsTer?
NM_001130867.1:c.782_794del	NP_001124339.1:p.Tyr261TrpfsTer?
XM_011526611.1:c.776_788del	XP_011524913.1:p.Tyr259TrpfsTer?
XR_935763.1:n.901_913del
XM_011526611.2:c.776_788del	XP_011524913.1:p.Tyr259TrpfsTer?
XM_017026467.1:c.731_743del	XP_016881956.1:p.Tyr244TrpfsTer?
XR_001753633.2:n.901_913del
XR_001753634.2:n.901_913del
NM_000400.4:c.854_866del MANE Select	NP_000391.1:p.Tyr285TrpfsTer?
NM_001130867.2:c.782_794del	NP_001124339.1:p.Tyr261TrpfsTer?