Canonical Allele Identifier: CA996286546

Gene: ERCC2

Linked Data

• dbSNP Id: rs1972333085
• gnomAD v3: 19-45364098-CT-C
• gnomAD v4: 19-45364098-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364099del , CM000681.2:g.45364099del	GRCh38
NC_000019.9:g.45867357del , CM000681.1:g.45867357del	GRCh37
NC_000019.8:g.50559197del	NCBI36
NG_007067.2:g.11489del , LRG_461:g.11489del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.836del	ENSP00000375808.4:p.Gln279ArgfsTer?
ENST00000682414.1:c.836del	ENSP00000507019.1:p.Gln279ArgfsTer?
ENST00000682508.1:n.865del
ENST00000684218.1:c.*94del	ENSP00000507804.1:n.*94del
ENST00000684407.1:c.713del	ENSP00000507775.1:p.Gln238ArgfsTer?
ENST00000684458.1:c.836del	ENSP00000508260.1:p.Gln279ArgfsTer?
ENST00000391945.10:c.836del MANE Select	ENSP00000375809.4:p.Gln279ArgfsTer?
ENST00000586131.6:c.764del	ENSP00000464887.1:p.Gln255ArgfsTer?
ENST00000646507.1:n.933del
ENST00000391941.6:c.764del	ENSP00000375805.2:p.Gln255ArgfsTer?
ENST00000391944.7:c.602del	ENSP00000375808.3:p.Gln201ArgfsTer?
ENST00000391945.8:c.836del	ENSP00000375809.3:p.Gln279ArgfsTer?
ENST00000485403.6:c.764del	ENSP00000431229.2:p.Gln255ArgfsTer?
ENST00000586131.5:c.764del	ENSP00000464887.1:p.Gln255ArgfsTer?
ENST00000586737.5:n.473del
ENST00000591309.5:c.*94del	ENSP00000465207.1:n.*94del
NM_000400.3:c.836del , LRG_461t1:c.836del	NP_000391.1:p.Gln279ArgfsTer?
NM_001130867.1:c.764del	NP_001124339.1:p.Gln255ArgfsTer?
XM_011526611.1:c.758del	XP_011524913.1:p.Gln253ArgfsTer?
XR_935763.1:n.883del
XM_011526611.2:c.758del	XP_011524913.1:p.Gln253ArgfsTer?
XM_017026467.1:c.713del	XP_016881956.1:p.Gln238ArgfsTer?
XR_001753633.2:n.883del
XR_001753634.2:n.883del
NM_000400.4:c.836del MANE Select	NP_000391.1:p.Gln279ArgfsTer?
NM_001130867.2:c.764del	NP_001124339.1:p.Gln255ArgfsTer?