Canonical Allele Identifier: CA2585788655

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45364039-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364042del , CM000681.2:g.45364042del	GRCh38
NC_000019.9:g.45867300del , CM000681.1:g.45867300del	GRCh37
NC_000019.8:g.50559140del	NCBI36
NG_007067.2:g.11548del , LRG_461:g.11548del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.895del	ENSP00000375808.4:p.Arg299GlyfsTer?
ENST00000682414.1:c.895del	ENSP00000507019.1:p.Arg299GlyfsTer?
ENST00000682508.1:n.924del
ENST00000684218.1:c.*153del	ENSP00000507804.1:n.*153del
ENST00000684407.1:c.772del	ENSP00000507775.1:p.Arg258GlyfsTer?
ENST00000684458.1:c.895del	ENSP00000508260.1:p.Arg299GlyfsTer?
ENST00000391945.10:c.895del MANE Select	ENSP00000375809.4:p.Arg299GlyfsTer?
ENST00000586131.6:c.823del	ENSP00000464887.1:p.Arg275GlyfsTer?
ENST00000587376.6:c.18del
ENST00000646507.1:n.992del
ENST00000391941.6:c.823del	ENSP00000375805.2:p.Arg275GlyfsTer?
ENST00000391944.7:c.661del	ENSP00000375808.3:p.Arg221GlyfsTer?
ENST00000391945.8:c.895del	ENSP00000375809.3:p.Arg299GlyfsTer?
ENST00000485403.6:c.823del	ENSP00000431229.2:p.Arg275GlyfsTer?
ENST00000586131.5:c.823del	ENSP00000464887.1:p.Arg275GlyfsTer?
ENST00000587376.5:c.18del
ENST00000591309.5:c.*153del	ENSP00000465207.1:n.*153del
NM_000400.3:c.895del , LRG_461t1:c.895del	NP_000391.1:p.Arg299GlyfsTer?
NM_001130867.1:c.823del	NP_001124339.1:p.Arg275GlyfsTer?
XM_011526611.1:c.817del	XP_011524913.1:p.Arg273GlyfsTer?
XR_935763.1:n.942del
XM_011526611.2:c.817del	XP_011524913.1:p.Arg273GlyfsTer?
XM_017026467.1:c.772del	XP_016881956.1:p.Arg258GlyfsTer?
XR_001753633.2:n.942del
XR_001753634.2:n.942del
NM_000400.4:c.895del MANE Select	NP_000391.1:p.Arg299GlyfsTer?
NM_001130867.2:c.823del	NP_001124339.1:p.Arg275GlyfsTer?