Canonical Allele Identifier: CA2338388687
Gene: ERCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352238G= , CM000681.2:g.45352238G= GRCh38
NC_000019.9:g.45855496G= , CM000681.1:g.45855496G= GRCh37
NC_000019.8:g.50547336G= NCBI36
NG_007067.2:g.23350C= , LRG_461:g.23350C=

Transcript Alleles

HGVS Amino-acid change
ENST00000391944.8:c.2161C= ENSP00000375808.4:p.Leu721=
ENST00000682414.1:c.2161C= ENSP00000507019.1:p.Leu721=
ENST00000682508.1:n.2190C=
ENST00000684218.1:c.*1419C= ENSP00000507804.1:n.*1419C=
ENST00000684264.1:n.1717C=
ENST00000684407.1:c.2038C= ENSP00000507775.1:p.Leu680=
ENST00000684458.1:c.*647C= ENSP00000508260.1:n.*647C=
ENST00000684468.1:n.1873C=
ENST00000391945.10:c.2161C= MANE Select ENSP00000375809.4:p.Leu721=
ENST00000646507.1:n.2258C=
ENST00000391941.6:c.2089C= ENSP00000375805.2:p.Leu697=
ENST00000391942.6:n.1332C=
ENST00000391944.7:c.1927C= ENSP00000375808.3:p.Leu643=
ENST00000391945.8:c.2161C= ENSP00000375809.3:p.Leu721=
ENST00000588652.5:n.2249C=
NM_000400.3:c.2161C= , LRG_461t1:c.2161C= NP_000391.1:p.Leu721=
XM_011526611.1:c.2083C= XP_011524913.1:p.Leu695=
XM_011526611.2:c.2083C= XP_011524913.1:p.Leu695=
XM_017026467.1:c.2038C= XP_016881956.1:p.Leu680=
XR_001753633.2:n.2208C=
XR_001753634.2:n.2144C=
NM_000400.4:c.2161C= MANE Select NP_000391.1:p.Leu721=