Canonical Allele Identifier: CA2338388867
Gene: ERCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352515A= , CM000681.2:g.45352515A= GRCh38
NC_000019.9:g.45855773A= , CM000681.1:g.45855773A= GRCh37
NC_000019.8:g.50547613A= NCBI36
NG_007067.2:g.23073T= , LRG_461:g.23073T=

Transcript Alleles

HGVS Amino-acid change
ENST00000391944.8:c.2037T= ENSP00000375808.4:p.Phe679=
ENST00000682414.1:c.2037T= ENSP00000507019.1:p.Phe679=
ENST00000682508.1:n.2066T=
ENST00000684218.1:c.*1295T= ENSP00000507804.1:n.*1295T=
ENST00000684264.1:n.1593T=
ENST00000684407.1:c.1914T= ENSP00000507775.1:p.Phe638=
ENST00000684458.1:c.*523T= ENSP00000508260.1:n.*523T=
ENST00000684468.1:n.1749T=
ENST00000391945.10:c.2037T= MANE Select ENSP00000375809.4:p.Phe679=
ENST00000646507.1:n.2134T=
ENST00000391941.6:c.1965T= ENSP00000375805.2:p.Phe655=
ENST00000391942.6:n.1208T=
ENST00000391944.7:c.1803T= ENSP00000375808.3:p.Phe601=
ENST00000391945.8:c.2037T= ENSP00000375809.3:p.Phe679=
ENST00000588652.5:n.2125T=
NM_000400.3:c.2037T= , LRG_461t1:c.2037T= NP_000391.1:p.Phe679=
XM_011526611.1:c.1959T= XP_011524913.1:p.Phe653=
XM_011526611.2:c.1959T= XP_011524913.1:p.Phe653=
XM_017026467.1:c.1914T= XP_016881956.1:p.Phe638=
XR_001753633.2:n.2084T=
XR_001753634.2:n.2020T=
NM_000400.4:c.2037T= MANE Select NP_000391.1:p.Phe679=