Canonical Allele Identifier: CA2839850753

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364020del , CM000681.2:g.45364020del	GRCh38
NC_000019.9:g.45867278del , CM000681.1:g.45867278del	GRCh37
NC_000019.8:g.50559118del	NCBI36
NG_007067.2:g.11569del , LRG_461:g.11569del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.916del	ENSP00000375808.4:p.Ala306ProfsTer28
ENST00000682414.1:c.916del	ENSP00000507019.1:p.Ala306ProfsTer28
ENST00000682508.1:n.945del
ENST00000684218.1:c.*174del	ENSP00000507804.1:n.*174del
ENST00000684407.1:c.793del	ENSP00000507775.1:p.Ala265ProfsTer28
ENST00000684458.1:c.916del	ENSP00000508260.1:p.Ala306ProfsTer28
ENST00000391945.10:c.916del MANE Select	ENSP00000375809.4:p.Ala306ProfsTer28
ENST00000586131.6:c.844del	ENSP00000464887.1:p.Ala282ProfsTer?
ENST00000587376.6:c.39del
ENST00000646507.1:n.1013del
ENST00000391941.6:c.844del	ENSP00000375805.2:p.Ala282ProfsTer28
ENST00000391944.7:c.682del	ENSP00000375808.3:p.Ala228ProfsTer28
ENST00000391945.8:c.916del	ENSP00000375809.3:p.Ala306ProfsTer28
ENST00000485403.6:c.844del	ENSP00000431229.2:p.Ala282ProfsTer28
ENST00000586131.5:c.844del	ENSP00000464887.1:p.Ala282ProfsTer?
ENST00000587376.5:c.39del
NM_000400.3:c.916del , LRG_461t1:c.916del	NP_000391.1:p.Ala306ProfsTer28
NM_001130867.1:c.844del	NP_001124339.1:p.Ala282ProfsTer28
XM_011526611.1:c.838del	XP_011524913.1:p.Ala280ProfsTer28
XR_935763.1:n.963del
XM_011526611.2:c.838del	XP_011524913.1:p.Ala280ProfsTer28
XM_017026467.1:c.793del	XP_016881956.1:p.Ala265ProfsTer28
XR_001753633.2:n.963del
XR_001753634.2:n.963del
NM_000400.4:c.916del MANE Select	NP_000391.1:p.Ala306ProfsTer28
NM_001130867.2:c.844del	NP_001124339.1:p.Ala282ProfsTer28