Canonical Allele Identifier: CA882717068
Gene: ERCC2 HGNC NCBI

Linked Data

dbSNP Id: rs1300993839

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45353681_45353682del , CM000681.2:g.45353681_45353682del GRCh38
NC_000019.9:g.45856939_45856940del , CM000681.1:g.45856939_45856940del GRCh37
NC_000019.8:g.50548779_50548780del NCBI36
NG_007067.2:g.21906_21907del , LRG_461:g.21906_21907del

Transcript Alleles

HGVS Amino-acid change
ENST00000391944.8:c.1666-348_1666-347del ENSP00000375808.4:n.1666-348_1666-347del
ENST00000682414.1:c.1666-348_1666-347del ENSP00000507019.1:n.1666-348_1666-347del
ENST00000682508.1:n.1695-348_1695-347del
ENST00000684218.1:c.*924-348_*924-347del ENSP00000507804.1:n.*924-348_*924-347del
ENST00000684264.1:n.1222-348_1222-347del
ENST00000684407.1:c.1543-348_1543-347del ENSP00000507775.1:n.1543-348_1543-347del
ENST00000684458.1:c.*152-348_*152-347del ENSP00000508260.1:n.*152-348_*152-347del
ENST00000684468.1:n.1378-348_1378-347del
ENST00000391945.10:c.1666-348_1666-347del MANE Select ENSP00000375809.4:n.1666-348_1666-347del
ENST00000587376.6:c.725-348_725-347del
ENST00000646507.1:n.1763-348_1763-347del
ENST00000391941.6:c.1594-348_1594-347del ENSP00000375805.2:n.1594-348_1594-347del
ENST00000391942.6:n.837-348_837-347del
ENST00000391944.7:c.1432-348_1432-347del ENSP00000375808.3:n.1432-348_1432-347del
ENST00000391945.8:c.1666-348_1666-347del ENSP00000375809.3:n.1666-348_1666-347del
ENST00000587376.5:c.725-348_725-347del
ENST00000588652.5:n.1754-348_1754-347del
NM_000400.3:c.1666-348_1666-347del , LRG_461t1:c.1666-348_1666-347del NP_000391.1:n.1666-348_1666-347del
XM_011526611.1:c.1588-348_1588-347del XP_011524913.1:n.1588-348_1588-347del
XR_935763.1:n.1649-348_1649-347del
XM_011526611.2:c.1588-348_1588-347del XP_011524913.1:n.1588-348_1588-347del
XM_017026467.1:c.1543-348_1543-347del XP_016881956.1:n.1543-348_1543-347del
XR_001753633.2:n.1713-348_1713-347del
XR_001753634.2:n.1649-348_1649-347del
NM_000400.4:c.1666-348_1666-347del MANE Select NP_000391.1:n.1666-348_1666-347del