Canonical Allele Identifier: CA2338389455
Gene: ERCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45353375C= , CM000681.2:g.45353375C= GRCh38
NC_000019.9:g.45856633C= , CM000681.1:g.45856633C= GRCh37
NC_000019.8:g.50548473C= NCBI36
NG_007067.2:g.22213G= , LRG_461:g.22213G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000391944.8:c.1666-41G= ENSP00000375808.4:n.1666-41G=
ENST00000682414.1:c.1666-41G= ENSP00000507019.1:n.1666-41G=
ENST00000682508.1:n.1695-41G=
ENST00000684218.1:c.*924-41G= ENSP00000507804.1:n.*924-41G=
ENST00000684264.1:n.1222-41G=
ENST00000684407.1:c.1543-41G= ENSP00000507775.1:n.1543-41G=
ENST00000684458.1:c.*152-41G= ENSP00000508260.1:n.*152-41G=
ENST00000684468.1:n.1378-41G=
ENST00000391945.10:c.1666-41G= MANE Select ENSP00000375809.4:n.1666-41G=
ENST00000587376.6:c.725-41G=
ENST00000646507.1:n.1763-41G=
ENST00000391941.6:c.1594-41G= ENSP00000375805.2:n.1594-41G=
ENST00000391942.6:n.837-41G=
ENST00000391944.7:c.1432-41G= ENSP00000375808.3:n.1432-41G=
ENST00000391945.8:c.1666-41G= ENSP00000375809.3:n.1666-41G=
ENST00000587376.5:c.725-41G=
ENST00000588652.5:n.1754-41G=
NM_000400.3:c.1666-41G= , LRG_461t1:c.1666-41G= NP_000391.1:n.1666-41G=
XM_011526611.1:c.1588-41G= XP_011524913.1:n.1588-41G=
XR_935763.1:n.1649-41G=
XM_011526611.2:c.1588-41G= XP_011524913.1:n.1588-41G=
XM_017026467.1:c.1543-41G= XP_016881956.1:n.1543-41G=
XR_001753633.2:n.1713-41G=
XR_001753634.2:n.1649-41G=
NM_000400.4:c.1666-41G= MANE Select NP_000391.1:n.1666-41G=