Canonical Allele Identifier: CA406362787
Gene: ERCC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352522A>T , CM000681.2:g.45352522A>T GRCh38
NC_000019.9:g.45855780A>T , CM000681.1:g.45855780A>T GRCh37
NC_000019.8:g.50547620A>T NCBI36
NG_007067.2:g.23066T>A , LRG_461:g.23066T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000391944.8:c.2030T>A ENSP00000375808.4:p.Met677Lys
ENST00000682414.1:c.2030T>A ENSP00000507019.1:p.Met677Lys
ENST00000682508.1:n.2059T>A
ENST00000684218.1:c.*1288T>A ENSP00000507804.1:n.*1288T>A
ENST00000684264.1:n.1586T>A
ENST00000684407.1:c.1907T>A ENSP00000507775.1:p.Met636Lys
ENST00000684458.1:c.*516T>A ENSP00000508260.1:n.*516T>A
ENST00000684468.1:n.1742T>A
ENST00000391945.10:c.2030T>A MANE Select ENSP00000375809.4:p.Met677Lys
ENST00000646507.1:n.2127T>A
ENST00000391941.6:c.1958T>A ENSP00000375805.2:p.Met653Lys
ENST00000391942.6:n.1201T>A
ENST00000391944.7:c.1796T>A ENSP00000375808.3:p.Met599Lys
ENST00000391945.8:c.2030T>A ENSP00000375809.3:p.Met677Lys
ENST00000588652.5:n.2118T>A
NM_000400.3:c.2030T>A , LRG_461t1:c.2030T>A NP_000391.1:p.Met677Lys
XM_011526611.1:c.1952T>A XP_011524913.1:p.Met651Lys
XM_011526611.2:c.1952T>A XP_011524913.1:p.Met651Lys
XM_017026467.1:c.1907T>A XP_016881956.1:p.Met636Lys
XR_001753633.2:n.2077T>A
XR_001753634.2:n.2013T>A
NM_000400.4:c.2030T>A MANE Select NP_000391.1:p.Met677Lys