Canonical Allele Identifier: CA996296260
Gene: ERCC2 HGNC NCBI

Linked Data

dbSNP Id: rs1971910699

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45353678_45353679del , CM000681.2:g.45353678_45353679del GRCh38
NC_000019.9:g.45856936_45856937del , CM000681.1:g.45856936_45856937del GRCh37
NC_000019.8:g.50548776_50548777del NCBI36
NG_007067.2:g.21912_21913del , LRG_461:g.21912_21913del

Transcript Alleles

HGVS Amino-acid change
ENST00000391944.8:c.1666-342_1666-341del ENSP00000375808.4:n.1666-342_1666-341del
ENST00000682414.1:c.1666-342_1666-341del ENSP00000507019.1:n.1666-342_1666-341del
ENST00000682508.1:n.1695-342_1695-341del
ENST00000684218.1:c.*924-342_*924-341del ENSP00000507804.1:n.*924-342_*924-341del
ENST00000684264.1:n.1222-342_1222-341del
ENST00000684407.1:c.1543-342_1543-341del ENSP00000507775.1:n.1543-342_1543-341del
ENST00000684458.1:c.*152-342_*152-341del ENSP00000508260.1:n.*152-342_*152-341del
ENST00000684468.1:n.1378-342_1378-341del
ENST00000391945.10:c.1666-342_1666-341del MANE Select ENSP00000375809.4:n.1666-342_1666-341del
ENST00000587376.6:c.725-342_725-341del
ENST00000646507.1:n.1763-342_1763-341del
ENST00000391941.6:c.1594-342_1594-341del ENSP00000375805.2:n.1594-342_1594-341del
ENST00000391942.6:n.837-342_837-341del
ENST00000391944.7:c.1432-342_1432-341del ENSP00000375808.3:n.1432-342_1432-341del
ENST00000391945.8:c.1666-342_1666-341del ENSP00000375809.3:n.1666-342_1666-341del
ENST00000587376.5:c.725-342_725-341del
ENST00000588652.5:n.1754-342_1754-341del
NM_000400.3:c.1666-342_1666-341del , LRG_461t1:c.1666-342_1666-341del NP_000391.1:n.1666-342_1666-341del
XM_011526611.1:c.1588-342_1588-341del XP_011524913.1:n.1588-342_1588-341del
XR_935763.1:n.1649-342_1649-341del
XM_011526611.2:c.1588-342_1588-341del XP_011524913.1:n.1588-342_1588-341del
XM_017026467.1:c.1543-342_1543-341del XP_016881956.1:n.1543-342_1543-341del
XR_001753633.2:n.1713-342_1713-341del
XR_001753634.2:n.1649-342_1649-341del
NM_000400.4:c.1666-342_1666-341del MANE Select NP_000391.1:n.1666-342_1666-341del