Canonical Allele Identifier: CA126893
Gene: ERCC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 16792
dbSNP Id: rs121913026

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352235G>A , CM000681.2:g.45352235G>A GRCh38
NC_000019.9:g.45855493G>A , CM000681.1:g.45855493G>A GRCh37
NC_000019.8:g.50547333G>A NCBI36
NG_007067.2:g.23353C>T , LRG_461:g.23353C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000391945.10:c.2164C>T MANE Select ENSP00000375809.4:p.Arg722Trp
ENST00000646507.1:n.2261C>T
ENST00000391941.6:c.2092C>T ENSP00000375805.2:p.Arg698Trp
ENST00000391942.6:n.1335C>T
ENST00000391944.7:c.1930C>T ENSP00000375808.3:p.Arg644Trp
ENST00000391945.8:c.2164C>T ENSP00000375809.3:p.Arg722Trp
ENST00000588652.5:n.2252C>T
NM_000400.3:c.2164C>T , LRG_461t1:c.2164C>T NP_000391.1:p.Arg722Trp
XM_011526611.1:c.2086C>T XP_011524913.1:p.Arg696Trp
XM_011526611.2:c.2086C>T XP_011524913.1:p.Arg696Trp
XM_017026467.1:c.2041C>T XP_016881956.1:p.Arg681Trp
XR_001753633.2:n.2211C>T
XR_001753634.2:n.2147C>T
NM_000400.4:c.2164C>T MANE Select NP_000391.1:p.Arg722Trp