Canonical Allele Identifier: CA2338388631
Gene: ERCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352161G= , CM000681.2:g.45352161G= GRCh38
NC_000019.9:g.45855419G= , CM000681.1:g.45855419G= GRCh37
NC_000019.8:g.50547259G= NCBI36
NG_007067.2:g.23427C= , LRG_461:g.23427C=

Transcript Alleles

HGVS Amino-acid change
ENST00000391944.8:c.2238C= ENSP00000375808.4:p.Ser746=
ENST00000682414.1:c.2190+48C= ENSP00000507019.1:n.2190+48C=
ENST00000682508.1:n.2219+48C=
ENST00000684218.1:c.*1448+48C= ENSP00000507804.1:n.*1448+48C=
ENST00000684264.1:n.1746+48C=
ENST00000684407.1:c.2067+48C= ENSP00000507775.1:n.2067+48C=
ENST00000684458.1:c.*676+48C= ENSP00000508260.1:n.*676+48C=
ENST00000684468.1:n.1902+48C=
ENST00000391945.10:c.2190+48C= MANE Select ENSP00000375809.4:n.2190+48C=
ENST00000646507.1:n.2287+48C=
ENST00000391942.6:n.1361+48C=
ENST00000391944.7:c.1956+48C= ENSP00000375808.3:n.1956+48C=
ENST00000391945.8:c.2190+48C= ENSP00000375809.3:n.2190+48C=
ENST00000588652.5:n.2278+48C=
NM_000400.3:c.2190+48C= , LRG_461t1:c.2190+48C= NP_000391.1:n.2190+48C=
XM_011526611.1:c.2112+48C= XP_011524913.1:n.2112+48C=
XM_011526611.2:c.2112+48C= XP_011524913.1:n.2112+48C=
XM_017026467.1:c.2067+48C= XP_016881956.1:n.2067+48C=
XR_001753633.2:n.2237+48C=
XR_001753634.2:n.2173+48C=
NM_000400.4:c.2190+48C= MANE Select NP_000391.1:n.2190+48C=