Canonical Allele Identifier: CA406362003
Gene: ERCC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352244A>C , CM000681.2:g.45352244A>C GRCh38
NC_000019.9:g.45855502A>C , CM000681.1:g.45855502A>C GRCh37
NC_000019.8:g.50547342A>C NCBI36
NG_007067.2:g.23344T>G , LRG_461:g.23344T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000391945.10:c.2155T>G MANE Select ENSP00000375809.4:p.Tyr719Asp
ENST00000646507.1:n.2252T>G
ENST00000391941.6:c.2083T>G ENSP00000375805.2:p.Tyr695Asp
ENST00000391942.6:n.1326T>G
ENST00000391944.7:c.1921T>G ENSP00000375808.3:p.Tyr641Asp
ENST00000391945.8:c.2155T>G ENSP00000375809.3:p.Tyr719Asp
ENST00000588652.5:n.2243T>G
NM_000400.3:c.2155T>G , LRG_461t1:c.2155T>G NP_000391.1:p.Tyr719Asp
XM_011526611.1:c.2077T>G XP_011524913.1:p.Tyr693Asp
XM_011526611.2:c.2077T>G XP_011524913.1:p.Tyr693Asp
XM_017026467.1:c.2032T>G XP_016881956.1:p.Tyr678Asp
XR_001753633.2:n.2202T>G
XR_001753634.2:n.2138T>G
NM_000400.4:c.2155T>G MANE Select NP_000391.1:p.Tyr719Asp