Canonical Allele Identifier: CA2338389531
Gene: ERCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45353496_45353498delinsGGA , CM000681.2:g.45353496_45353498delinsGGA GRCh38
NC_000019.9:g.45856754_45856756delinsGGA , CM000681.1:g.45856754_45856756delinsGGA GRCh37
NC_000019.8:g.50548594_50548596delinsGGA NCBI36
NG_007067.2:g.22090_22092delinsTCC , LRG_461:g.22090_22092delinsTCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000391944.8:c.1666-164_1666-162delinsTCC ENSP00000375808.4:n.1666-164_1666-162delinsTCC
ENST00000682414.1:c.1666-164_1666-162delinsTCC ENSP00000507019.1:n.1666-164_1666-162delinsTCC
ENST00000682508.1:n.1695-164_1695-162delinsTCC
ENST00000684218.1:c.*924-164_*924-162delinsTCC ENSP00000507804.1:n.*924-164_*924-162delinsTCC
ENST00000684264.1:n.1222-164_1222-162delinsTCC
ENST00000684407.1:c.1543-164_1543-162delinsTCC ENSP00000507775.1:n.1543-164_1543-162delinsTCC
ENST00000684458.1:c.*152-164_*152-162delinsTCC ENSP00000508260.1:n.*152-164_*152-162delinsTCC
ENST00000684468.1:n.1378-164_1378-162delinsTCC
ENST00000391945.10:c.1666-164_1666-162delinsTCC MANE Select ENSP00000375809.4:n.1666-164_1666-162delinsTCC
ENST00000587376.6:c.725-164_725-162delinsTCC
ENST00000646507.1:n.1763-164_1763-162delinsTCC
ENST00000391941.6:c.1594-164_1594-162delinsTCC ENSP00000375805.2:n.1594-164_1594-162delinsTCC
ENST00000391942.6:n.837-164_837-162delinsTCC
ENST00000391944.7:c.1432-164_1432-162delinsTCC ENSP00000375808.3:n.1432-164_1432-162delinsTCC
ENST00000391945.8:c.1666-164_1666-162delinsTCC ENSP00000375809.3:n.1666-164_1666-162delinsTCC
ENST00000587376.5:c.725-164_725-162delinsTCC
ENST00000588652.5:n.1754-164_1754-162delinsTCC
NM_000400.3:c.1666-164_1666-162delinsTCC , LRG_461t1:c.1666-164_1666-162delinsTCC NP_000391.1:n.1666-164_1666-162delinsTCC
XM_011526611.1:c.1588-164_1588-162delinsTCC XP_011524913.1:n.1588-164_1588-162delinsTCC
XR_935763.1:n.1649-164_1649-162delinsTCC
XM_011526611.2:c.1588-164_1588-162delinsTCC XP_011524913.1:n.1588-164_1588-162delinsTCC
XM_017026467.1:c.1543-164_1543-162delinsTCC XP_016881956.1:n.1543-164_1543-162delinsTCC
XR_001753633.2:n.1713-164_1713-162delinsTCC
XR_001753634.2:n.1649-164_1649-162delinsTCC
NM_000400.4:c.1666-164_1666-162delinsTCC MANE Select NP_000391.1:n.1666-164_1666-162delinsTCC