Canonical Allele Identifier: CA2338389807
Gene: ERCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45353933T= , CM000681.2:g.45353933T= GRCh38
NC_000019.9:g.45857191T= , CM000681.1:g.45857191T= GRCh37
NC_000019.8:g.50549031T= NCBI36
NG_007067.2:g.21655A= , LRG_461:g.21655A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000391944.8:c.1666-599A= ENSP00000375808.4:n.1666-599A=
ENST00000682414.1:c.1666-599A= ENSP00000507019.1:n.1666-599A=
ENST00000682508.1:n.1695-599A=
ENST00000684218.1:c.*924-599A= ENSP00000507804.1:n.*924-599A=
ENST00000684264.1:n.1222-599A=
ENST00000684407.1:c.1543-599A= ENSP00000507775.1:n.1543-599A=
ENST00000684458.1:c.*152-599A= ENSP00000508260.1:n.*152-599A=
ENST00000684468.1:n.1378-599A=
ENST00000391945.10:c.1666-599A= MANE Select ENSP00000375809.4:n.1666-599A=
ENST00000587376.6:c.725-599A=
ENST00000646507.1:n.1763-599A=
ENST00000391941.6:c.1594-599A= ENSP00000375805.2:n.1594-599A=
ENST00000391942.6:n.837-599A=
ENST00000391944.7:c.1432-599A= ENSP00000375808.3:n.1432-599A=
ENST00000391945.8:c.1666-599A= ENSP00000375809.3:n.1666-599A=
ENST00000587376.5:c.725-599A=
ENST00000588652.5:n.1754-599A=
NM_000400.3:c.1666-599A= , LRG_461t1:c.1666-599A= NP_000391.1:n.1666-599A=
XM_011526611.1:c.1588-599A= XP_011524913.1:n.1588-599A=
XR_935763.1:n.1649-599A=
XM_011526611.2:c.1588-599A= XP_011524913.1:n.1588-599A=
XM_017026467.1:c.1543-599A= XP_016881956.1:n.1543-599A=
XR_001753633.2:n.1713-599A=
XR_001753634.2:n.1649-599A=
NM_000400.4:c.1666-599A= MANE Select NP_000391.1:n.1666-599A=