Canonical Allele Identifier: CA308953302
Gene: ERCC2 HGNC NCBI

Linked Data

dbSNP Id: rs922429224

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45353668_45353681del , CM000681.2:g.45353668_45353681del GRCh38
NC_000019.9:g.45856926_45856939del , CM000681.1:g.45856926_45856939del GRCh37
NC_000019.8:g.50548766_50548779del NCBI36
NG_007067.2:g.21911_21924del , LRG_461:g.21911_21924del

Transcript Alleles

HGVS Amino-acid Change
ENST00000391944.8:c.1666-343_1666-330del ENSP00000375808.4:n.1666-343_1666-330del
ENST00000682414.1:c.1666-343_1666-330del ENSP00000507019.1:n.1666-343_1666-330del
ENST00000682508.1:n.1695-343_1695-330del
ENST00000684218.1:c.*924-343_*924-330del ENSP00000507804.1:n.*924-343_*924-330del
ENST00000684264.1:n.1222-343_1222-330del
ENST00000684407.1:c.1543-343_1543-330del ENSP00000507775.1:n.1543-343_1543-330del
ENST00000684458.1:c.*152-343_*152-330del ENSP00000508260.1:n.*152-343_*152-330del
ENST00000684468.1:n.1378-343_1378-330del
ENST00000391945.10:c.1666-343_1666-330del MANE Select ENSP00000375809.4:n.1666-343_1666-330del
ENST00000587376.6:c.725-343_725-330del
ENST00000646507.1:n.1763-343_1763-330del
ENST00000391941.6:c.1594-343_1594-330del ENSP00000375805.2:n.1594-343_1594-330del
ENST00000391942.6:n.837-343_837-330del
ENST00000391944.7:c.1432-343_1432-330del ENSP00000375808.3:n.1432-343_1432-330del
ENST00000391945.8:c.1666-343_1666-330del ENSP00000375809.3:n.1666-343_1666-330del
ENST00000587376.5:c.725-343_725-330del
ENST00000588652.5:n.1754-343_1754-330del
NM_000400.3:c.1666-343_1666-330del , LRG_461t1:c.1666-343_1666-330del NP_000391.1:n.1666-343_1666-330del
XM_011526611.1:c.1588-343_1588-330del XP_011524913.1:n.1588-343_1588-330del
XR_935763.1:n.1649-343_1649-330del
XM_011526611.2:c.1588-343_1588-330del XP_011524913.1:n.1588-343_1588-330del
XM_017026467.1:c.1543-343_1543-330del XP_016881956.1:n.1543-343_1543-330del
XR_001753633.2:n.1713-343_1713-330del
XR_001753634.2:n.1649-343_1649-330del
NM_000400.4:c.1666-343_1666-330del MANE Select NP_000391.1:n.1666-343_1666-330del