Canonical Allele Identifier: CA2338388871
Gene: ERCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352521C= , CM000681.2:g.45352521C= GRCh38
NC_000019.9:g.45855779C= , CM000681.1:g.45855779C= GRCh37
NC_000019.8:g.50547619C= NCBI36
NG_007067.2:g.23067G= , LRG_461:g.23067G=

Transcript Alleles

HGVS Amino-acid change
ENST00000391944.8:c.2031G= ENSP00000375808.4:p.Met677=
ENST00000682414.1:c.2031G= ENSP00000507019.1:p.Met677=
ENST00000682508.1:n.2060G=
ENST00000684218.1:c.*1289G= ENSP00000507804.1:n.*1289G=
ENST00000684264.1:n.1587G=
ENST00000684407.1:c.1908G= ENSP00000507775.1:p.Met636=
ENST00000684458.1:c.*517G= ENSP00000508260.1:n.*517G=
ENST00000684468.1:n.1743G=
ENST00000391945.10:c.2031G= MANE Select ENSP00000375809.4:p.Met677=
ENST00000646507.1:n.2128G=
ENST00000391941.6:c.1959G= ENSP00000375805.2:p.Met653=
ENST00000391942.6:n.1202G=
ENST00000391944.7:c.1797G= ENSP00000375808.3:p.Met599=
ENST00000391945.8:c.2031G= ENSP00000375809.3:p.Met677=
ENST00000588652.5:n.2119G=
NM_000400.3:c.2031G= , LRG_461t1:c.2031G= NP_000391.1:p.Met677=
XM_011526611.1:c.1953G= XP_011524913.1:p.Met651=
XM_011526611.2:c.1953G= XP_011524913.1:p.Met651=
XM_017026467.1:c.1908G= XP_016881956.1:p.Met636=
XR_001753633.2:n.2078G=
XR_001753634.2:n.2014G=
NM_000400.4:c.2031G= MANE Select NP_000391.1:p.Met677=