Canonical Allele Identifier: CA9512864
Gene: ERCC2 HGNC NCBI

Linked Data

dbSNP Id: rs758814007

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352236C>T , CM000681.2:g.45352236C>T GRCh38
NC_000019.9:g.45855494C>T , CM000681.1:g.45855494C>T GRCh37
NC_000019.8:g.50547334C>T NCBI36
NG_007067.2:g.23352G>A , LRG_461:g.23352G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000391944.8:c.2163G>A ENSP00000375808.4:p.Leu721=
ENST00000682414.1:c.2163G>A ENSP00000507019.1:p.Leu721=
ENST00000682508.1:n.2192G>A
ENST00000684218.1:c.*1421G>A ENSP00000507804.1:n.*1421G>A
ENST00000684264.1:n.1719G>A
ENST00000684407.1:c.2040G>A ENSP00000507775.1:p.Leu680=
ENST00000684458.1:c.*649G>A ENSP00000508260.1:n.*649G>A
ENST00000684468.1:n.1875G>A
ENST00000391945.10:c.2163G>A MANE Select ENSP00000375809.4:p.Leu721=
ENST00000646507.1:n.2260G>A
ENST00000391941.6:c.2091G>A ENSP00000375805.2:p.Leu697=
ENST00000391942.6:n.1334G>A
ENST00000391944.7:c.1929G>A ENSP00000375808.3:p.Leu643=
ENST00000391945.8:c.2163G>A ENSP00000375809.3:p.Leu721=
ENST00000588652.5:n.2251G>A
NM_000400.3:c.2163G>A , LRG_461t1:c.2163G>A NP_000391.1:p.Leu721=
XM_011526611.1:c.2085G>A XP_011524913.1:p.Leu695=
XM_011526611.2:c.2085G>A XP_011524913.1:p.Leu695=
XM_017026467.1:c.2040G>A XP_016881956.1:p.Leu680=
XR_001753633.2:n.2210G>A
XR_001753634.2:n.2146G>A
NM_000400.4:c.2163G>A MANE Select NP_000391.1:p.Leu721=