Canonical Allele Identifier: CA406363065
Gene: ERCC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2176736
ClinVar RCV Id: RCV002610269
dbSNP Id: rs1435353438

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352561A>G , CM000681.2:g.45352561A>G GRCh38
NC_000019.9:g.45855819A>G , CM000681.1:g.45855819A>G GRCh37
NC_000019.8:g.50547659A>G NCBI36
NG_007067.2:g.23027T>C , LRG_461:g.23027T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000391944.8:c.1991T>C ENSP00000375808.4:p.Val664Ala
ENST00000682414.1:c.1991T>C ENSP00000507019.1:p.Val664Ala
ENST00000682508.1:n.2020T>C
ENST00000684218.1:c.*1249T>C ENSP00000507804.1:n.*1249T>C
ENST00000684264.1:n.1547T>C
ENST00000684407.1:c.1868T>C ENSP00000507775.1:p.Val623Ala
ENST00000684458.1:c.*477T>C ENSP00000508260.1:n.*477T>C
ENST00000684468.1:n.1703T>C
ENST00000391945.10:c.1991T>C MANE Select ENSP00000375809.4:p.Val664Ala
ENST00000646507.1:n.2088T>C
ENST00000391941.6:c.1919T>C ENSP00000375805.2:p.Val640Ala
ENST00000391942.6:n.1162T>C
ENST00000391944.7:c.1757T>C ENSP00000375808.3:p.Val586Ala
ENST00000391945.8:c.1991T>C ENSP00000375809.3:p.Val664Ala
ENST00000588652.5:n.2079T>C
NM_000400.3:c.1991T>C , LRG_461t1:c.1991T>C NP_000391.1:p.Val664Ala
XM_011526611.1:c.1913T>C XP_011524913.1:p.Val638Ala
XM_011526611.2:c.1913T>C XP_011524913.1:p.Val638Ala
XM_017026467.1:c.1868T>C XP_016881956.1:p.Val623Ala
XR_001753633.2:n.2038T>C
XR_001753634.2:n.1974T>C
NM_000400.4:c.1991T>C MANE Select NP_000391.1:p.Val664Ala