Canonical Allele Identifier: CA996294931
Gene: ERCC2 HGNC NCBI

Linked Data

dbSNP Id: rs1971822649

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352148_45352168dup , CM000681.2:g.45352148_45352168dup GRCh38
NC_000019.9:g.45855406_45855426dup , CM000681.1:g.45855406_45855426dup GRCh37
NC_000019.8:g.50547246_50547266dup NCBI36
NG_007067.2:g.23420_23440dup , LRG_461:g.23420_23440dup

Transcript Alleles

HGVS Amino-acid change
ENST00000391944.8:c.2231_2251dup ENSP00000375808.4:p.Ser750_Pro751insArgPh...
ENST00000682414.1:c.2190+41_2190+61dup ENSP00000507019.1:n.2190+41_2190+61dup
ENST00000682508.1:n.2219+41_2219+61dup
ENST00000684218.1:c.*1448+41_*1448+61dup ENSP00000507804.1:n.*1448+41_*1448+61dup
ENST00000684264.1:n.1746+41_1746+61dup
ENST00000684407.1:c.2067+41_2067+61dup ENSP00000507775.1:n.2067+41_2067+61dup
ENST00000684458.1:c.*676+41_*676+61dup ENSP00000508260.1:n.*676+41_*676+61dup
ENST00000684468.1:n.1902+41_1902+61dup
ENST00000391945.10:c.2190+41_2190+61dup MANE Select ENSP00000375809.4:n.2190+41_2190+61dup
ENST00000646507.1:n.2287+41_2287+61dup
ENST00000391942.6:n.1361+41_1361+61dup
ENST00000391944.7:c.1956+41_1956+61dup ENSP00000375808.3:n.1956+41_1956+61dup
ENST00000391945.8:c.2190+41_2190+61dup ENSP00000375809.3:n.2190+41_2190+61dup
ENST00000588652.5:n.2278+41_2278+61dup
NM_000400.3:c.2190+41_2190+61dup , LRG_461t1:c.2190+41_2190+61dup NP_000391.1:n.2190+41_2190+61dup
XM_011526611.1:c.2112+41_2112+61dup XP_011524913.1:n.2112+41_2112+61dup
XM_011526611.2:c.2112+41_2112+61dup XP_011524913.1:n.2112+41_2112+61dup
XM_017026467.1:c.2067+41_2067+61dup XP_016881956.1:n.2067+41_2067+61dup
XR_001753633.2:n.2237+41_2237+61dup
XR_001753634.2:n.2173+41_2173+61dup
NM_000400.4:c.2190+41_2190+61dup MANE Select NP_000391.1:n.2190+41_2190+61dup