Canonical Allele Identifier: CA2338388746
Gene: ERCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352326C= , CM000681.2:g.45352326C= GRCh38
NC_000019.9:g.45855584C= , CM000681.1:g.45855584C= GRCh37
NC_000019.8:g.50547424C= NCBI36
NG_007067.2:g.23262G= , LRG_461:g.23262G=

Transcript Alleles

HGVS Amino-acid change
ENST00000391944.8:c.2073G= ENSP00000375808.4:p.Gly691=
ENST00000682414.1:c.2073G= ENSP00000507019.1:p.Gly691=
ENST00000682508.1:n.2102G=
ENST00000684218.1:c.*1331G= ENSP00000507804.1:n.*1331G=
ENST00000684264.1:n.1629G=
ENST00000684407.1:c.1950G= ENSP00000507775.1:p.Gly650=
ENST00000684458.1:c.*559G= ENSP00000508260.1:n.*559G=
ENST00000684468.1:n.1785G=
ENST00000391945.10:c.2073G= MANE Select ENSP00000375809.4:p.Gly691=
ENST00000646507.1:n.2170G=
ENST00000391941.6:c.2001G= ENSP00000375805.2:p.Gly667=
ENST00000391942.6:n.1244G=
ENST00000391944.7:c.1839G= ENSP00000375808.3:p.Gly613=
ENST00000391945.8:c.2073G= ENSP00000375809.3:p.Gly691=
ENST00000588652.5:n.2161G=
NM_000400.3:c.2073G= , LRG_461t1:c.2073G= NP_000391.1:p.Gly691=
XM_011526611.1:c.1995G= XP_011524913.1:p.Gly665=
XM_011526611.2:c.1995G= XP_011524913.1:p.Gly665=
XM_017026467.1:c.1950G= XP_016881956.1:p.Gly650=
XR_001753633.2:n.2120G=
XR_001753634.2:n.2056G=
NM_000400.4:c.2073G= MANE Select NP_000391.1:p.Gly691=