Canonical Allele Identifier: CA2338389658
Gene: ERCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45353678_45353680delinsGAC , CM000681.2:g.45353678_45353680delinsGAC GRCh38
NC_000019.9:g.45856936_45856938delinsGAC , CM000681.1:g.45856936_45856938delinsGAC GRCh37
NC_000019.8:g.50548776_50548778delinsGAC NCBI36
NG_007067.2:g.21908_21910delinsGTC , LRG_461:g.21908_21910delinsGTC

Transcript Alleles

HGVS Amino-acid change
ENST00000391944.8:c.1666-346_1666-344delinsGTC ENSP00000375808.4:n.1666-346_1666-344deli...
ENST00000682414.1:c.1666-346_1666-344delinsGTC ENSP00000507019.1:n.1666-346_1666-344deli...
ENST00000682508.1:n.1695-346_1695-344delinsGTC
ENST00000684218.1:c.*924-346_*924-344delinsGTC ENSP00000507804.1:n.*924-346_*924-344deli...
ENST00000684264.1:n.1222-346_1222-344delinsGTC
ENST00000684407.1:c.1543-346_1543-344delinsGTC ENSP00000507775.1:n.1543-346_1543-344deli...
ENST00000684458.1:c.*152-346_*152-344delinsGTC ENSP00000508260.1:n.*152-346_*152-344deli...
ENST00000684468.1:n.1378-346_1378-344delinsGTC
ENST00000391945.10:c.1666-346_1666-344delinsGTC MANE Select ENSP00000375809.4:n.1666-346_1666-344deli...
ENST00000587376.6:c.725-346_725-344delinsGTC
ENST00000646507.1:n.1763-346_1763-344delinsGTC
ENST00000391941.6:c.1594-346_1594-344delinsGTC ENSP00000375805.2:n.1594-346_1594-344deli...
ENST00000391942.6:n.837-346_837-344delinsGTC
ENST00000391944.7:c.1432-346_1432-344delinsGTC ENSP00000375808.3:n.1432-346_1432-344deli...
ENST00000391945.8:c.1666-346_1666-344delinsGTC ENSP00000375809.3:n.1666-346_1666-344deli...
ENST00000587376.5:c.725-346_725-344delinsGTC
ENST00000588652.5:n.1754-346_1754-344delinsGTC
NM_000400.3:c.1666-346_1666-344delinsGTC , LRG_461t1:c.1666-346_1666-344delinsGTC NP_000391.1:n.1666-346_1666-344delinsGTC
XM_011526611.1:c.1588-346_1588-344delinsGTC XP_011524913.1:n.1588-346_1588-344delinsG...
XR_935763.1:n.1649-346_1649-344delinsGTC
XM_011526611.2:c.1588-346_1588-344delinsGTC XP_011524913.1:n.1588-346_1588-344delinsG...
XM_017026467.1:c.1543-346_1543-344delinsGTC XP_016881956.1:n.1543-346_1543-344delinsG...
XR_001753633.2:n.1713-346_1713-344delinsGTC
XR_001753634.2:n.1649-346_1649-344delinsGTC
NM_000400.4:c.1666-346_1666-344delinsGTC MANE Select NP_000391.1:n.1666-346_1666-344delinsGTC