Canonical Allele Identifier: CA406362015
Gene: ERCC2 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000391945.10:c.2153A>T MANE Select ENSP00000375809.4:p.Lys718Met
ENST00000646507.1:n.2250A>T
ENST00000391941.6:c.2081A>T ENSP00000375805.2:p.Lys694Met
ENST00000391942.6:n.1324A>T
ENST00000391944.7:c.1919A>T ENSP00000375808.3:p.Lys640Met
ENST00000391945.8:c.2153A>T ENSP00000375809.3:p.Lys718Met
ENST00000588652.5:n.2241A>T
NM_000400.3:c.2153A>T , LRG_461t1:c.2153A>T NP_000391.1:p.Lys718Met
XM_011526611.1:c.2075A>T XP_011524913.1:p.Lys692Met
XM_011526611.2:c.2075A>T XP_011524913.1:p.Lys692Met
XM_017026467.1:c.2030A>T XP_016881956.1:p.Lys677Met
XR_001753633.2:n.2200A>T
XR_001753634.2:n.2136A>T
NM_000400.4:c.2153A>T MANE Select NP_000391.1:p.Lys718Met