Canonical Allele Identifier: CA2338389645
Gene: ERCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45353663_45353677delinsTGACACTACAATAGA , CM000681.2:g.45353663_45353677delinsTGACACTACAATAGA GRCh38
NC_000019.9:g.45856921_45856935delinsTGACACTACAATAGA , CM000681.1:g.45856921_45856935delinsTGACACTACAATAGA GRCh37
NC_000019.8:g.50548761_50548775delinsTGACACTACAATAGA NCBI36
NG_007067.2:g.21911_21925delinsTCTATTGTAGTGTCA , LRG_461:g.21911_21925delinsTCTATTGTAGTGTCA

Transcript Alleles

HGVS Amino-acid change
ENST00000391944.8:c.1666-343_1666-329delinsTCTATTGTAGTGTCA ENSP00000375808.4:n.1666-343_1666-329deli...
ENST00000682414.1:c.1666-343_1666-329delinsTCTATTGTAGTGTCA ENSP00000507019.1:n.1666-343_1666-329deli...
ENST00000682508.1:n.1695-343_1695-329delinsTCTATTGTAGTGTCA
ENST00000684218.1:c.*924-343_*924-329delinsTCTATTGTAGTGTCA ENSP00000507804.1:n.*924-343_*924-329deli...
ENST00000684264.1:n.1222-343_1222-329delinsTCTATTGTAGTGTCA
ENST00000684407.1:c.1543-343_1543-329delinsTCTATTGTAGTGTCA ENSP00000507775.1:n.1543-343_1543-329deli...
ENST00000684458.1:c.*152-343_*152-329delinsTCTATTGTAGTGTCA ENSP00000508260.1:n.*152-343_*152-329deli...
ENST00000684468.1:n.1378-343_1378-329delinsTCTATTGTAGTGTCA
ENST00000391945.10:c.1666-343_1666-329delinsTCTATTGTAGTGTCA MANE Select ENSP00000375809.4:n.1666-343_1666-329deli...
ENST00000587376.6:c.725-343_725-329delinsTCTATTGTAGTGTCA
ENST00000646507.1:n.1763-343_1763-329delinsTCTATTGTAGTGTCA
ENST00000391941.6:c.1594-343_1594-329delinsTCTATTGTAGTGTCA ENSP00000375805.2:n.1594-343_1594-329deli...
ENST00000391942.6:n.837-343_837-329delinsTCTATTGTAGTGTCA
ENST00000391944.7:c.1432-343_1432-329delinsTCTATTGTAGTGTCA ENSP00000375808.3:n.1432-343_1432-329deli...
ENST00000391945.8:c.1666-343_1666-329delinsTCTATTGTAGTGTCA ENSP00000375809.3:n.1666-343_1666-329deli...
ENST00000587376.5:c.725-343_725-329delinsTCTATTGTAGTGTCA
ENST00000588652.5:n.1754-343_1754-329delinsTCTATTGTAGTGTCA
NM_000400.3:c.1666-343_1666-329delinsTCTATTGTAGTGTCA , LRG_461t1:c.1666-343_1666-329delinsTCTATTGTAGTGTCA NP_000391.1:n.1666-343_1666-329delinsTCTA...
XM_011526611.1:c.1588-343_1588-329delinsTCTATTGTAGTGTCA XP_011524913.1:n.1588-343_1588-329delinsT...
XR_935763.1:n.1649-343_1649-329delinsTCTATTGTAGTGTCA
XM_011526611.2:c.1588-343_1588-329delinsTCTATTGTAGTGTCA XP_011524913.1:n.1588-343_1588-329delinsT...
XM_017026467.1:c.1543-343_1543-329delinsTCTATTGTAGTGTCA XP_016881956.1:n.1543-343_1543-329delinsT...
XR_001753633.2:n.1713-343_1713-329delinsTCTATTGTAGTGTCA
XR_001753634.2:n.1649-343_1649-329delinsTCTATTGTAGTGTCA
NM_000400.4:c.1666-343_1666-329delinsTCTATTGTAGTGTCA MANE Select NP_000391.1:n.1666-343_1666-329delinsTCTA...