Canonical Allele Identifier: CA2338389688
Gene: ERCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45353733_45353735delinsAAC , CM000681.2:g.45353733_45353735delinsAAC GRCh38
NC_000019.9:g.45856991_45856993delinsAAC , CM000681.1:g.45856991_45856993delinsAAC GRCh37
NC_000019.8:g.50548831_50548833delinsAAC NCBI36
NG_007067.2:g.21853_21855delinsGTT , LRG_461:g.21853_21855delinsGTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000391944.8:c.1666-401_1666-399delinsGTT ENSP00000375808.4:n.1666-401_1666-399delinsGTT
ENST00000682414.1:c.1666-401_1666-399delinsGTT ENSP00000507019.1:n.1666-401_1666-399delinsGTT
ENST00000682508.1:n.1695-401_1695-399delinsGTT
ENST00000684218.1:c.*924-401_*924-399delinsGTT ENSP00000507804.1:n.*924-401_*924-399delinsGTT
ENST00000684264.1:n.1222-401_1222-399delinsGTT
ENST00000684407.1:c.1543-401_1543-399delinsGTT ENSP00000507775.1:n.1543-401_1543-399delinsGTT
ENST00000684458.1:c.*152-401_*152-399delinsGTT ENSP00000508260.1:n.*152-401_*152-399delinsGTT
ENST00000684468.1:n.1378-401_1378-399delinsGTT
ENST00000391945.10:c.1666-401_1666-399delinsGTT MANE Select ENSP00000375809.4:n.1666-401_1666-399delinsGTT
ENST00000587376.6:c.725-401_725-399delinsGTT
ENST00000646507.1:n.1763-401_1763-399delinsGTT
ENST00000391941.6:c.1594-401_1594-399delinsGTT ENSP00000375805.2:n.1594-401_1594-399delinsGTT
ENST00000391942.6:n.837-401_837-399delinsGTT
ENST00000391944.7:c.1432-401_1432-399delinsGTT ENSP00000375808.3:n.1432-401_1432-399delinsGTT
ENST00000391945.8:c.1666-401_1666-399delinsGTT ENSP00000375809.3:n.1666-401_1666-399delinsGTT
ENST00000587376.5:c.725-401_725-399delinsGTT
ENST00000588652.5:n.1754-401_1754-399delinsGTT
NM_000400.3:c.1666-401_1666-399delinsGTT , LRG_461t1:c.1666-401_1666-399delinsGTT NP_000391.1:n.1666-401_1666-399delinsGTT
XM_011526611.1:c.1588-401_1588-399delinsGTT XP_011524913.1:n.1588-401_1588-399delinsGTT
XR_935763.1:n.1649-401_1649-399delinsGTT
XM_011526611.2:c.1588-401_1588-399delinsGTT XP_011524913.1:n.1588-401_1588-399delinsGTT
XM_017026467.1:c.1543-401_1543-399delinsGTT XP_016881956.1:n.1543-401_1543-399delinsGTT
XR_001753633.2:n.1713-401_1713-399delinsGTT
XR_001753634.2:n.1649-401_1649-399delinsGTT
NM_000400.4:c.1666-401_1666-399delinsGTT MANE Select NP_000391.1:n.1666-401_1666-399delinsGTT