Canonical Allele Identifier: CA2338388690
Gene: ERCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352243T= , CM000681.2:g.45352243T= GRCh38
NC_000019.9:g.45855501T= , CM000681.1:g.45855501T= GRCh37
NC_000019.8:g.50547341T= NCBI36
NG_007067.2:g.23345A= , LRG_461:g.23345A=

Transcript Alleles

HGVS Amino-acid change
ENST00000391944.8:c.2156A= ENSP00000375808.4:p.Tyr719=
ENST00000682414.1:c.2156A= ENSP00000507019.1:p.Tyr719=
ENST00000682508.1:n.2185A=
ENST00000684218.1:c.*1414A= ENSP00000507804.1:n.*1414A=
ENST00000684264.1:n.1712A=
ENST00000684407.1:c.2033A= ENSP00000507775.1:p.Tyr678=
ENST00000684458.1:c.*642A= ENSP00000508260.1:n.*642A=
ENST00000684468.1:n.1868A=
ENST00000391945.10:c.2156A= MANE Select ENSP00000375809.4:p.Tyr719=
ENST00000646507.1:n.2253A=
ENST00000391941.6:c.2084A= ENSP00000375805.2:p.Tyr695=
ENST00000391942.6:n.1327A=
ENST00000391944.7:c.1922A= ENSP00000375808.3:p.Tyr641=
ENST00000391945.8:c.2156A= ENSP00000375809.3:p.Tyr719=
ENST00000588652.5:n.2244A=
NM_000400.3:c.2156A= , LRG_461t1:c.2156A= NP_000391.1:p.Tyr719=
XM_011526611.1:c.2078A= XP_011524913.1:p.Tyr693=
XM_011526611.2:c.2078A= XP_011524913.1:p.Tyr693=
XM_017026467.1:c.2033A= XP_016881956.1:p.Tyr678=
XR_001753633.2:n.2203A=
XR_001753634.2:n.2139A=
NM_000400.4:c.2156A= MANE Select NP_000391.1:p.Tyr719=