Canonical Allele Identifier: CA2338389903
Gene: ERCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45354067G= , CM000681.2:g.45354067G= GRCh38
NC_000019.9:g.45857325G= , CM000681.1:g.45857325G= GRCh37
NC_000019.8:g.50549165G= NCBI36
NG_007067.2:g.21521C= , LRG_461:g.21521C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000391944.8:c.1665+663C= ENSP00000375808.4:n.1665+663C=
ENST00000682414.1:c.1665+663C= ENSP00000507019.1:n.1665+663C=
ENST00000682508.1:n.1694+663C=
ENST00000684218.1:c.*923+663C= ENSP00000507804.1:n.*923+663C=
ENST00000684264.1:n.1221+663C=
ENST00000684407.1:c.1542+663C= ENSP00000507775.1:n.1542+663C=
ENST00000684458.1:c.*151+663C= ENSP00000508260.1:n.*151+663C=
ENST00000684468.1:n.1377+663C=
ENST00000391945.10:c.1665+663C= MANE Select ENSP00000375809.4:n.1665+663C=
ENST00000587376.6:c.724+663C=
ENST00000646507.1:n.1762+663C=
ENST00000391941.6:c.1593+663C= ENSP00000375805.2:n.1593+663C=
ENST00000391942.6:n.836+663C=
ENST00000391944.7:c.1431+663C= ENSP00000375808.3:n.1431+663C=
ENST00000391945.8:c.1665+663C= ENSP00000375809.3:n.1665+663C=
ENST00000587376.5:c.724+663C=
ENST00000588652.5:n.1753+663C=
NM_000400.3:c.1665+663C= , LRG_461t1:c.1665+663C= NP_000391.1:n.1665+663C=
XM_011526611.1:c.1587+663C= XP_011524913.1:n.1587+663C=
XR_935763.1:n.1648+663C=
XM_011526611.2:c.1587+663C= XP_011524913.1:n.1587+663C=
XM_017026467.1:c.1542+663C= XP_016881956.1:n.1542+663C=
XR_001753633.2:n.1712+663C=
XR_001753634.2:n.1648+663C=
NM_000400.4:c.1665+663C= MANE Select NP_000391.1:n.1665+663C=