Canonical Allele Identifier: CA2338389051
Gene: ERCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352805C= , CM000681.2:g.45352805C= GRCh38
NC_000019.9:g.45856063C= , CM000681.1:g.45856063C= GRCh37
NC_000019.8:g.50547903C= NCBI36
NG_007067.2:g.22783G= , LRG_461:g.22783G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000391944.8:c.1843G= ENSP00000375808.4:p.Gly615=
ENST00000682414.1:c.1843G= ENSP00000507019.1:p.Gly615=
ENST00000682508.1:n.1872G=
ENST00000684218.1:c.*1101G= ENSP00000507804.1:n.*1101G=
ENST00000684264.1:n.1399G=
ENST00000684407.1:c.1720G= ENSP00000507775.1:p.Gly574=
ENST00000684458.1:c.*329G= ENSP00000508260.1:n.*329G=
ENST00000684468.1:n.1555G=
ENST00000391945.10:c.1843G= MANE Select ENSP00000375809.4:p.Gly615=
ENST00000646507.1:n.1940G=
ENST00000391941.6:c.1771G= ENSP00000375805.2:p.Gly591=
ENST00000391942.6:n.1014G=
ENST00000391944.7:c.1609G= ENSP00000375808.3:p.Gly537=
ENST00000391945.8:c.1843G= ENSP00000375809.3:p.Gly615=
ENST00000588652.5:n.1931G=
NM_000400.3:c.1843G= , LRG_461t1:c.1843G= NP_000391.1:p.Gly615=
XM_011526611.1:c.1765G= XP_011524913.1:p.Gly589=
XM_011526611.2:c.1765G= XP_011524913.1:p.Gly589=
XM_017026467.1:c.1720G= XP_016881956.1:p.Gly574=
XR_001753633.2:n.1890G=
XR_001753634.2:n.1826G=
NM_000400.4:c.1843G= MANE Select NP_000391.1:p.Gly615=