Canonical Allele Identifier: CA406362022
Gene: ERCC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352247T>A , CM000681.2:g.45352247T>A GRCh38
NC_000019.9:g.45855505T>A , CM000681.1:g.45855505T>A GRCh37
NC_000019.8:g.50547345T>A NCBI36
NG_007067.2:g.23341A>T , LRG_461:g.23341A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000391945.10:c.2152A>T MANE Select ENSP00000375809.4:p.Lys718Ter
ENST00000646507.1:n.2249A>T
ENST00000391941.6:c.2080A>T ENSP00000375805.2:p.Lys694Ter
ENST00000391942.6:n.1323A>T
ENST00000391944.7:c.1918A>T ENSP00000375808.3:p.Lys640Ter
ENST00000391945.8:c.2152A>T ENSP00000375809.3:p.Lys718Ter
ENST00000588652.5:n.2240A>T
NM_000400.3:c.2152A>T , LRG_461t1:c.2152A>T NP_000391.1:p.Lys718Ter
XM_011526611.1:c.2074A>T XP_011524913.1:p.Lys692Ter
XM_011526611.2:c.2074A>T XP_011524913.1:p.Lys692Ter
XM_017026467.1:c.2029A>T XP_016881956.1:p.Lys677Ter
XR_001753633.2:n.2199A>T
XR_001753634.2:n.2135A>T
NM_000400.4:c.2152A>T MANE Select NP_000391.1:p.Lys718Ter