Canonical Allele Identifier: CA2338388826
Gene: ERCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352436_45352437delinsGA , CM000681.2:g.45352436_45352437delinsGA GRCh38
NC_000019.9:g.45855694_45855695delinsGA , CM000681.1:g.45855694_45855695delinsGA GRCh37
NC_000019.8:g.50547534_50547535delinsGA NCBI36
NG_007067.2:g.23151_23152delinsTC , LRG_461:g.23151_23152delinsTC

Transcript Alleles

HGVS Amino-acid change
ENST00000391944.8:c.2046+69_2046+70delinsTC ENSP00000375808.4:n.2046+69_2046+70delins...
ENST00000682414.1:c.2046+69_2046+70delinsTC ENSP00000507019.1:n.2046+69_2046+70delins...
ENST00000682508.1:n.2075+69_2075+70delinsTC
ENST00000684218.1:c.*1304+69_*1304+70delinsTC ENSP00000507804.1:n.*1304+69_*1304+70deli...
ENST00000684264.1:n.1602+69_1602+70delinsTC
ENST00000684407.1:c.1923+69_1923+70delinsTC ENSP00000507775.1:n.1923+69_1923+70delins...
ENST00000684458.1:c.*532+69_*532+70delinsTC ENSP00000508260.1:n.*532+69_*532+70delins...
ENST00000684468.1:n.1758+69_1758+70delinsTC
ENST00000391945.10:c.2046+69_2046+70delinsTC MANE Select ENSP00000375809.4:n.2046+69_2046+70delins...
ENST00000646507.1:n.2143+69_2143+70delinsTC
ENST00000391941.6:c.1974+69_1974+70delinsTC ENSP00000375805.2:n.1974+69_1974+70delins...
ENST00000391942.6:n.1217+69_1217+70delinsTC
ENST00000391944.7:c.1812+69_1812+70delinsTC ENSP00000375808.3:n.1812+69_1812+70delins...
ENST00000391945.8:c.2046+69_2046+70delinsTC ENSP00000375809.3:n.2046+69_2046+70delins...
ENST00000588652.5:n.2134+69_2134+70delinsTC
NM_000400.3:c.2046+69_2046+70delinsTC , LRG_461t1:c.2046+69_2046+70delinsTC NP_000391.1:n.2046+69_2046+70delinsTC
XM_011526611.1:c.1968+69_1968+70delinsTC XP_011524913.1:n.1968+69_1968+70delinsTC
XM_011526611.2:c.1968+69_1968+70delinsTC XP_011524913.1:n.1968+69_1968+70delinsTC
XM_017026467.1:c.1923+69_1923+70delinsTC XP_016881956.1:n.1923+69_1923+70delinsTC
XR_001753633.2:n.2093+69_2093+70delinsTC
XR_001753634.2:n.2029+69_2029+70delinsTC
NM_000400.4:c.2046+69_2046+70delinsTC MANE Select NP_000391.1:n.2046+69_2046+70delinsTC