Canonical Allele Identifier: CA2338388755
Gene: ERCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352340C= , CM000681.2:g.45352340C= GRCh38
NC_000019.9:g.45855598C= , CM000681.1:g.45855598C= GRCh37
NC_000019.8:g.50547438C= NCBI36
NG_007067.2:g.23248G= , LRG_461:g.23248G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000391944.8:c.2059G= ENSP00000375808.4:p.Gly687=
ENST00000682414.1:c.2059G= ENSP00000507019.1:p.Gly687=
ENST00000682508.1:n.2088G=
ENST00000684218.1:c.*1317G= ENSP00000507804.1:n.*1317G=
ENST00000684264.1:n.1615G=
ENST00000684407.1:c.1936G= ENSP00000507775.1:p.Gly646=
ENST00000684458.1:c.*545G= ENSP00000508260.1:n.*545G=
ENST00000684468.1:n.1771G=
ENST00000391945.10:c.2059G= MANE Select ENSP00000375809.4:p.Gly687=
ENST00000646507.1:n.2156G=
ENST00000391941.6:c.1987G= ENSP00000375805.2:p.Gly663=
ENST00000391942.6:n.1230G=
ENST00000391944.7:c.1825G= ENSP00000375808.3:p.Gly609=
ENST00000391945.8:c.2059G= ENSP00000375809.3:p.Gly687=
ENST00000588652.5:n.2147G=
NM_000400.3:c.2059G= , LRG_461t1:c.2059G= NP_000391.1:p.Gly687=
XM_011526611.1:c.1981G= XP_011524913.1:p.Gly661=
XM_011526611.2:c.1981G= XP_011524913.1:p.Gly661=
XM_017026467.1:c.1936G= XP_016881956.1:p.Gly646=
XR_001753633.2:n.2106G=
XR_001753634.2:n.2042G=
NM_000400.4:c.2059G= MANE Select NP_000391.1:p.Gly687=