Canonical Allele Identifier: CA2338388694
Gene: ERCC2 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000391945.10:c.2152A= MANE Select ENSP00000375809.4:p.Lys718=
ENST00000646507.1:n.2249A=
ENST00000391941.6:c.2080A= ENSP00000375805.2:p.Lys694=
ENST00000391942.6:n.1323A=
ENST00000391944.7:c.1918A= ENSP00000375808.3:p.Lys640=
ENST00000391945.8:c.2152A= ENSP00000375809.3:p.Lys718=
ENST00000588652.5:n.2240A=
NM_000400.3:c.2152A= , LRG_461t1:c.2152A= NP_000391.1:p.Lys718=
XM_011526611.1:c.2074A= XP_011524913.1:p.Lys692=
XM_011526611.2:c.2074A= XP_011524913.1:p.Lys692=
XM_017026467.1:c.2029A= XP_016881956.1:p.Lys677=
XR_001753633.2:n.2199A=
XR_001753634.2:n.2135A=
NM_000400.4:c.2152A= MANE Select NP_000391.1:p.Lys718=