Canonical Allele Identifier: CA2338389459
Gene: ERCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45353384_45353385delinsTG , CM000681.2:g.45353384_45353385delinsTG GRCh38
NC_000019.9:g.45856642_45856643delinsTG , CM000681.1:g.45856642_45856643delinsTG GRCh37
NC_000019.8:g.50548482_50548483delinsTG NCBI36
NG_007067.2:g.22203_22204delinsCA , LRG_461:g.22203_22204delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000391944.8:c.1666-51_1666-50delinsCA ENSP00000375808.4:n.1666-51_1666-50delinsCA
ENST00000682414.1:c.1666-51_1666-50delinsCA ENSP00000507019.1:n.1666-51_1666-50delinsCA
ENST00000682508.1:n.1695-51_1695-50delinsCA
ENST00000684218.1:c.*924-51_*924-50delinsCA ENSP00000507804.1:n.*924-51_*924-50delinsCA
ENST00000684264.1:n.1222-51_1222-50delinsCA
ENST00000684407.1:c.1543-51_1543-50delinsCA ENSP00000507775.1:n.1543-51_1543-50delinsCA
ENST00000684458.1:c.*152-51_*152-50delinsCA ENSP00000508260.1:n.*152-51_*152-50delinsCA
ENST00000684468.1:n.1378-51_1378-50delinsCA
ENST00000391945.10:c.1666-51_1666-50delinsCA MANE Select ENSP00000375809.4:n.1666-51_1666-50delinsCA
ENST00000587376.6:c.725-51_725-50delinsCA
ENST00000646507.1:n.1763-51_1763-50delinsCA
ENST00000391941.6:c.1594-51_1594-50delinsCA ENSP00000375805.2:n.1594-51_1594-50delinsCA
ENST00000391942.6:n.837-51_837-50delinsCA
ENST00000391944.7:c.1432-51_1432-50delinsCA ENSP00000375808.3:n.1432-51_1432-50delinsCA
ENST00000391945.8:c.1666-51_1666-50delinsCA ENSP00000375809.3:n.1666-51_1666-50delinsCA
ENST00000587376.5:c.725-51_725-50delinsCA
ENST00000588652.5:n.1754-51_1754-50delinsCA
NM_000400.3:c.1666-51_1666-50delinsCA , LRG_461t1:c.1666-51_1666-50delinsCA NP_000391.1:n.1666-51_1666-50delinsCA
XM_011526611.1:c.1588-51_1588-50delinsCA XP_011524913.1:n.1588-51_1588-50delinsCA
XR_935763.1:n.1649-51_1649-50delinsCA
XM_011526611.2:c.1588-51_1588-50delinsCA XP_011524913.1:n.1588-51_1588-50delinsCA
XM_017026467.1:c.1543-51_1543-50delinsCA XP_016881956.1:n.1543-51_1543-50delinsCA
XR_001753633.2:n.1713-51_1713-50delinsCA
XR_001753634.2:n.1649-51_1649-50delinsCA
NM_000400.4:c.1666-51_1666-50delinsCA MANE Select NP_000391.1:n.1666-51_1666-50delinsCA