Canonical Allele Identifier: CA2338389571
Gene: ERCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45353561_45353562delinsCG , CM000681.2:g.45353561_45353562delinsCG GRCh38
NC_000019.9:g.45856819_45856820delinsCG , CM000681.1:g.45856819_45856820delinsCG GRCh37
NC_000019.8:g.50548659_50548660delinsCG NCBI36
NG_007067.2:g.22026_22027delinsCG , LRG_461:g.22026_22027delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000391944.8:c.1666-228_1666-227delinsCG ENSP00000375808.4:n.1666-228_1666-227delinsCG
ENST00000682414.1:c.1666-228_1666-227delinsCG ENSP00000507019.1:n.1666-228_1666-227delinsCG
ENST00000682508.1:n.1695-228_1695-227delinsCG
ENST00000684218.1:c.*924-228_*924-227delinsCG ENSP00000507804.1:n.*924-228_*924-227delinsCG
ENST00000684264.1:n.1222-228_1222-227delinsCG
ENST00000684407.1:c.1543-228_1543-227delinsCG ENSP00000507775.1:n.1543-228_1543-227delinsCG
ENST00000684458.1:c.*152-228_*152-227delinsCG ENSP00000508260.1:n.*152-228_*152-227delinsCG
ENST00000684468.1:n.1378-228_1378-227delinsCG
ENST00000391945.10:c.1666-228_1666-227delinsCG MANE Select ENSP00000375809.4:n.1666-228_1666-227delinsCG
ENST00000587376.6:c.725-228_725-227delinsCG
ENST00000646507.1:n.1763-228_1763-227delinsCG
ENST00000391941.6:c.1594-228_1594-227delinsCG ENSP00000375805.2:n.1594-228_1594-227delinsCG
ENST00000391942.6:n.837-228_837-227delinsCG
ENST00000391944.7:c.1432-228_1432-227delinsCG ENSP00000375808.3:n.1432-228_1432-227delinsCG
ENST00000391945.8:c.1666-228_1666-227delinsCG ENSP00000375809.3:n.1666-228_1666-227delinsCG
ENST00000587376.5:c.725-228_725-227delinsCG
ENST00000588652.5:n.1754-228_1754-227delinsCG
NM_000400.3:c.1666-228_1666-227delinsCG , LRG_461t1:c.1666-228_1666-227delinsCG NP_000391.1:n.1666-228_1666-227delinsCG
XM_011526611.1:c.1588-228_1588-227delinsCG XP_011524913.1:n.1588-228_1588-227delinsCG
XR_935763.1:n.1649-228_1649-227delinsCG
XM_011526611.2:c.1588-228_1588-227delinsCG XP_011524913.1:n.1588-228_1588-227delinsCG
XM_017026467.1:c.1543-228_1543-227delinsCG XP_016881956.1:n.1543-228_1543-227delinsCG
XR_001753633.2:n.1713-228_1713-227delinsCG
XR_001753634.2:n.1649-228_1649-227delinsCG
NM_000400.4:c.1666-228_1666-227delinsCG MANE Select NP_000391.1:n.1666-228_1666-227delinsCG