Canonical Allele Identifier: CA406362018
Gene: ERCC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352246T>C , CM000681.2:g.45352246T>C GRCh38
NC_000019.9:g.45855504T>C , CM000681.1:g.45855504T>C GRCh37
NC_000019.8:g.50547344T>C NCBI36
NG_007067.2:g.23342A>G , LRG_461:g.23342A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000391944.8:c.2153A>G ENSP00000375808.4:p.Lys718Arg
ENST00000682414.1:c.2153A>G ENSP00000507019.1:p.Lys718Arg
ENST00000682508.1:n.2182A>G
ENST00000684218.1:c.*1411A>G ENSP00000507804.1:n.*1411A>G
ENST00000684264.1:n.1709A>G
ENST00000684407.1:c.2030A>G ENSP00000507775.1:p.Lys677Arg
ENST00000684458.1:c.*639A>G ENSP00000508260.1:n.*639A>G
ENST00000684468.1:n.1865A>G
ENST00000391945.10:c.2153A>G MANE Select ENSP00000375809.4:p.Lys718Arg
ENST00000646507.1:n.2250A>G
ENST00000391941.6:c.2081A>G ENSP00000375805.2:p.Lys694Arg
ENST00000391942.6:n.1324A>G
ENST00000391944.7:c.1919A>G ENSP00000375808.3:p.Lys640Arg
ENST00000391945.8:c.2153A>G ENSP00000375809.3:p.Lys718Arg
ENST00000588652.5:n.2241A>G
NM_000400.3:c.2153A>G , LRG_461t1:c.2153A>G NP_000391.1:p.Lys718Arg
XM_011526611.1:c.2075A>G XP_011524913.1:p.Lys692Arg
XM_011526611.2:c.2075A>G XP_011524913.1:p.Lys692Arg
XM_017026467.1:c.2030A>G XP_016881956.1:p.Lys677Arg
XR_001753633.2:n.2200A>G
XR_001753634.2:n.2136A>G
NM_000400.4:c.2153A>G MANE Select NP_000391.1:p.Lys718Arg