Canonical Allele Identifier: CA158776
Gene: ERCC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 134103
dbSNP Id: rs537616689

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352330C>T , CM000681.2:g.45352330C>T GRCh38
NC_000019.9:g.45855588C>T , CM000681.1:g.45855588C>T GRCh37
NC_000019.8:g.50547428C>T NCBI36
NG_007067.2:g.23258G>A , LRG_461:g.23258G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000391944.8:c.2069G>A ENSP00000375808.4:p.Arg690Gln
ENST00000682414.1:c.2069G>A ENSP00000507019.1:p.Arg690Gln
ENST00000682508.1:n.2098G>A
ENST00000684218.1:c.*1327G>A ENSP00000507804.1:n.*1327G>A
ENST00000684264.1:n.1625G>A
ENST00000684407.1:c.1946G>A ENSP00000507775.1:p.Arg649Gln
ENST00000684458.1:c.*555G>A ENSP00000508260.1:n.*555G>A
ENST00000684468.1:n.1781G>A
ENST00000391945.10:c.2069G>A MANE Select ENSP00000375809.4:p.Arg690Gln
ENST00000646507.1:n.2166G>A
ENST00000391941.6:c.1997G>A ENSP00000375805.2:p.Arg666Gln
ENST00000391942.6:n.1240G>A
ENST00000391944.7:c.1835G>A ENSP00000375808.3:p.Arg612Gln
ENST00000391945.8:c.2069G>A ENSP00000375809.3:p.Arg690Gln
ENST00000588652.5:n.2157G>A
NM_000400.3:c.2069G>A , LRG_461t1:c.2069G>A NP_000391.1:p.Arg690Gln
XM_011526611.1:c.1991G>A XP_011524913.1:p.Arg664Gln
XM_011526611.2:c.1991G>A XP_011524913.1:p.Arg664Gln
XM_017026467.1:c.1946G>A XP_016881956.1:p.Arg649Gln
XR_001753633.2:n.2116G>A
XR_001753634.2:n.2052G>A
NM_000400.4:c.2069G>A MANE Select NP_000391.1:p.Arg690Gln