Canonical Allele Identifier: CA406363025
Gene: ERCC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352555C>A , CM000681.2:g.45352555C>A GRCh38
NC_000019.9:g.45855813C>A , CM000681.1:g.45855813C>A GRCh37
NC_000019.8:g.50547653C>A NCBI36
NG_007067.2:g.23033G>T , LRG_461:g.23033G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000391944.8:c.1997G>T ENSP00000375808.4:p.Arg666Leu
ENST00000682414.1:c.1997G>T ENSP00000507019.1:p.Arg666Leu
ENST00000682508.1:n.2026G>T
ENST00000684218.1:c.*1255G>T ENSP00000507804.1:n.*1255G>T
ENST00000684264.1:n.1553G>T
ENST00000684407.1:c.1874G>T ENSP00000507775.1:p.Arg625Leu
ENST00000684458.1:c.*483G>T ENSP00000508260.1:n.*483G>T
ENST00000684468.1:n.1709G>T
ENST00000391945.10:c.1997G>T MANE Select ENSP00000375809.4:p.Arg666Leu
ENST00000646507.1:n.2094G>T
ENST00000391941.6:c.1925G>T ENSP00000375805.2:p.Arg642Leu
ENST00000391942.6:n.1168G>T
ENST00000391944.7:c.1763G>T ENSP00000375808.3:p.Arg588Leu
ENST00000391945.8:c.1997G>T ENSP00000375809.3:p.Arg666Leu
ENST00000588652.5:n.2085G>T
NM_000400.3:c.1997G>T , LRG_461t1:c.1997G>T NP_000391.1:p.Arg666Leu
XM_011526611.1:c.1919G>T XP_011524913.1:p.Arg640Leu
XM_011526611.2:c.1919G>T XP_011524913.1:p.Arg640Leu
XM_017026467.1:c.1874G>T XP_016881956.1:p.Arg625Leu
XR_001753633.2:n.2044G>T
XR_001753634.2:n.1980G>T
NM_000400.4:c.1997G>T MANE Select NP_000391.1:p.Arg666Leu