Canonical Allele Identifier: CA2338389853
Gene: ERCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45353989_45353990delinsTG , CM000681.2:g.45353989_45353990delinsTG GRCh38
NC_000019.9:g.45857247_45857248delinsTG , CM000681.1:g.45857247_45857248delinsTG GRCh37
NC_000019.8:g.50549087_50549088delinsTG NCBI36
NG_007067.2:g.21598_21599delinsCA , LRG_461:g.21598_21599delinsCA

Transcript Alleles

HGVS Amino-acid change
ENST00000391944.8:c.1666-656_1666-655delinsCA ENSP00000375808.4:n.1666-656_1666-655deli...
ENST00000682414.1:c.1666-656_1666-655delinsCA ENSP00000507019.1:n.1666-656_1666-655deli...
ENST00000682508.1:n.1695-656_1695-655delinsCA
ENST00000684218.1:c.*924-656_*924-655delinsCA ENSP00000507804.1:n.*924-656_*924-655deli...
ENST00000684264.1:n.1222-656_1222-655delinsCA
ENST00000684407.1:c.1543-656_1543-655delinsCA ENSP00000507775.1:n.1543-656_1543-655deli...
ENST00000684458.1:c.*152-656_*152-655delinsCA ENSP00000508260.1:n.*152-656_*152-655deli...
ENST00000684468.1:n.1378-656_1378-655delinsCA
ENST00000391945.10:c.1666-656_1666-655delinsCA MANE Select ENSP00000375809.4:n.1666-656_1666-655deli...
ENST00000587376.6:c.725-656_725-655delinsCA
ENST00000646507.1:n.1763-656_1763-655delinsCA
ENST00000391941.6:c.1594-656_1594-655delinsCA ENSP00000375805.2:n.1594-656_1594-655deli...
ENST00000391942.6:n.837-656_837-655delinsCA
ENST00000391944.7:c.1432-656_1432-655delinsCA ENSP00000375808.3:n.1432-656_1432-655deli...
ENST00000391945.8:c.1666-656_1666-655delinsCA ENSP00000375809.3:n.1666-656_1666-655deli...
ENST00000587376.5:c.725-656_725-655delinsCA
ENST00000588652.5:n.1754-656_1754-655delinsCA
NM_000400.3:c.1666-656_1666-655delinsCA , LRG_461t1:c.1666-656_1666-655delinsCA NP_000391.1:n.1666-656_1666-655delinsCA
XM_011526611.1:c.1588-656_1588-655delinsCA XP_011524913.1:n.1588-656_1588-655delinsC...
XR_935763.1:n.1649-656_1649-655delinsCA
XM_011526611.2:c.1588-656_1588-655delinsCA XP_011524913.1:n.1588-656_1588-655delinsC...
XM_017026467.1:c.1543-656_1543-655delinsCA XP_016881956.1:n.1543-656_1543-655delinsC...
XR_001753633.2:n.1713-656_1713-655delinsCA
XR_001753634.2:n.1649-656_1649-655delinsCA
NM_000400.4:c.1666-656_1666-655delinsCA MANE Select NP_000391.1:n.1666-656_1666-655delinsCA