Canonical Allele Identifier: CA2338388520

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352041_45352043delinsATC , CM000681.2:g.45352041_45352043delinsATC	GRCh38
NC_000019.9:g.45855299_45855301delinsATC , CM000681.1:g.45855299_45855301delinsATC	GRCh37
NC_000019.8:g.50547139_50547141delinsATC	NCBI36
NG_007067.2:g.23545_23547delinsGAT , LRG_461:g.23545_23547delinsGAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2356_2358delinsGAT	ENSP00000375808.4:p.Asp786=
ENST00000682414.1:c.2190+166_2190+168delinsGAT	ENSP00000507019.1:n.2190+166_2190+168deli...
ENST00000682508.1:n.2219+166_2219+168delinsGAT
ENST00000684218.1:c.*1448+166_*1448+168delinsGAT	ENSP00000507804.1:n.*1448+166_*1448+168de...
ENST00000684264.1:n.1746+166_1746+168delinsGAT
ENST00000684407.1:c.2067+166_2067+168delinsGAT	ENSP00000507775.1:n.2067+166_2067+168deli...
ENST00000684458.1:c.*676+166_*676+168delinsGAT	ENSP00000508260.1:n.*676+166_*676+168deli...
ENST00000684468.1:n.1902+166_1902+168delinsGAT
ENST00000391945.10:c.2190+166_2190+168delinsGAT MANE Select	ENSP00000375809.4:n.2190+166_2190+168deli...
ENST00000646507.1:n.2287+166_2287+168delinsGAT
ENST00000391942.6:n.1361+166_1361+168delinsGAT
ENST00000391944.7:c.1956+166_1956+168delinsGAT	ENSP00000375808.3:n.1956+166_1956+168deli...
ENST00000391945.8:c.2190+166_2190+168delinsGAT	ENSP00000375809.3:n.2190+166_2190+168deli...
ENST00000588652.5:n.2278+166_2278+168delinsGAT
NM_000400.3:c.2190+166_2190+168delinsGAT , LRG_461t1:c.2190+166_2190+168delinsGAT	NP_000391.1:n.2190+166_2190+168delinsGAT
XM_011526611.1:c.2112+166_2112+168delinsGAT	XP_011524913.1:n.2112+166_2112+168delinsG...
XM_011526611.2:c.2112+166_2112+168delinsGAT	XP_011524913.1:n.2112+166_2112+168delinsG...
XM_017026467.1:c.2067+166_2067+168delinsGAT	XP_016881956.1:n.2067+166_2067+168delinsG...
XR_001753633.2:n.2237+166_2237+168delinsGAT
XR_001753634.2:n.2173+166_2173+168delinsGAT
NM_000400.4:c.2190+166_2190+168delinsGAT MANE Select	NP_000391.1:n.2190+166_2190+168delinsGAT