Canonical Allele Identifier: CA406363071
Gene: ERCC2 HGNC NCBI

Linked Data

dbSNP Id: rs1971845864

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352562C>T , CM000681.2:g.45352562C>T GRCh38
NC_000019.9:g.45855820C>T , CM000681.1:g.45855820C>T GRCh37
NC_000019.8:g.50547660C>T NCBI36
NG_007067.2:g.23026G>A , LRG_461:g.23026G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000391944.8:c.1990G>A ENSP00000375808.4:p.Val664Met
ENST00000682414.1:c.1990G>A ENSP00000507019.1:p.Val664Met
ENST00000682508.1:n.2019G>A
ENST00000684218.1:c.*1248G>A ENSP00000507804.1:n.*1248G>A
ENST00000684264.1:n.1546G>A
ENST00000684407.1:c.1867G>A ENSP00000507775.1:p.Val623Met
ENST00000684458.1:c.*476G>A ENSP00000508260.1:n.*476G>A
ENST00000684468.1:n.1702G>A
ENST00000391945.10:c.1990G>A MANE Select ENSP00000375809.4:p.Val664Met
ENST00000646507.1:n.2087G>A
ENST00000391941.6:c.1918G>A ENSP00000375805.2:p.Val640Met
ENST00000391942.6:n.1161G>A
ENST00000391944.7:c.1756G>A ENSP00000375808.3:p.Val586Met
ENST00000391945.8:c.1990G>A ENSP00000375809.3:p.Val664Met
ENST00000588652.5:n.2078G>A
NM_000400.3:c.1990G>A , LRG_461t1:c.1990G>A NP_000391.1:p.Val664Met
XM_011526611.1:c.1912G>A XP_011524913.1:p.Val638Met
XM_011526611.2:c.1912G>A XP_011524913.1:p.Val638Met
XM_017026467.1:c.1867G>A XP_016881956.1:p.Val623Met
XR_001753633.2:n.2037G>A
XR_001753634.2:n.1973G>A
NM_000400.4:c.1990G>A MANE Select NP_000391.1:p.Val664Met