Canonical Allele Identifier: CA2338388883
Gene: ERCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352544C= , CM000681.2:g.45352544C= GRCh38
NC_000019.9:g.45855802C= , CM000681.1:g.45855802C= GRCh37
NC_000019.8:g.50547642C= NCBI36
NG_007067.2:g.23044G= , LRG_461:g.23044G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000391944.8:c.2008G= ENSP00000375808.4:p.Gly670=
ENST00000682414.1:c.2008G= ENSP00000507019.1:p.Gly670=
ENST00000682508.1:n.2037G=
ENST00000684218.1:c.*1266G= ENSP00000507804.1:n.*1266G=
ENST00000684264.1:n.1564G=
ENST00000684407.1:c.1885G= ENSP00000507775.1:p.Gly629=
ENST00000684458.1:c.*494G= ENSP00000508260.1:n.*494G=
ENST00000684468.1:n.1720G=
ENST00000391945.10:c.2008G= MANE Select ENSP00000375809.4:p.Gly670=
ENST00000646507.1:n.2105G=
ENST00000391941.6:c.1936G= ENSP00000375805.2:p.Gly646=
ENST00000391942.6:n.1179G=
ENST00000391944.7:c.1774G= ENSP00000375808.3:p.Gly592=
ENST00000391945.8:c.2008G= ENSP00000375809.3:p.Gly670=
ENST00000588652.5:n.2096G=
NM_000400.3:c.2008G= , LRG_461t1:c.2008G= NP_000391.1:p.Gly670=
XM_011526611.1:c.1930G= XP_011524913.1:p.Gly644=
XM_011526611.2:c.1930G= XP_011524913.1:p.Gly644=
XM_017026467.1:c.1885G= XP_016881956.1:p.Gly629=
XR_001753633.2:n.2055G=
XR_001753634.2:n.1991G=
NM_000400.4:c.2008G= MANE Select NP_000391.1:p.Gly670=