Canonical Allele Identifier: CA2338388458

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45351977_45351992delinsCCTCACCCCAACTTCT , CM000681.2:g.45351977_45351992delinsCCTCACCCCAACTTCT	GRCh38
NC_000019.9:g.45855235_45855250delinsCCTCACCCCAACTTCT , CM000681.1:g.45855235_45855250delinsCCTCACCCCAACTTCT	GRCh37
NC_000019.8:g.50547075_50547090delinsCCTCACCCCAACTTCT	NCBI36
NG_007067.2:g.23596_23611delinsAGAAGTTGGGGTGAGG , LRG_461:g.23596_23611delinsAGAAGTTGGGGTGAGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2407_2422delinsAGAAGTTGGGGTGAGG	ENSP00000375808.4:p.Arg803=
ENST00000682414.1:c.2190+217_2190+232delinsAGAAGTTGGGGTGAGG	ENSP00000507019.1:n.2190+217_2190+232delinsAGAAGTTGGGGTGAGG
ENST00000682508.1:n.2219+217_2219+232delinsAGAAGTTGGGGTGAGG
ENST00000684218.1:c.*1448+217_*1448+232delinsAGAAGTTGGGGTGAGG	ENSP00000507804.1:n.*1448+217_*1448+232delinsAGAAGTTGGGGTGAGG...
ENST00000684264.1:n.1746+217_1746+232delinsAGAAGTTGGGGTGAGG
ENST00000684407.1:c.2067+217_2067+232delinsAGAAGTTGGGGTGAGG	ENSP00000507775.1:n.2067+217_2067+232delinsAGAAGTTGGGGTGAGG
ENST00000684458.1:c.*676+217_*676+232delinsAGAAGTTGGGGTGAGG	ENSP00000508260.1:n.*676+217_*676+232delinsAGAAGTTGGGGTGAGG
ENST00000684468.1:n.1902+217_1902+232delinsAGAAGTTGGGGTGAGG
ENST00000391945.10:c.2190+217_2190+232delinsAGAAGTTGGGGTGAGG MANE Select	ENSP00000375809.4:n.2190+217_2190+232delinsAGAAGTTGGGGTGAGG
ENST00000646507.1:n.2287+217_2287+232delinsAGAAGTTGGGGTGAGG
ENST00000391942.6:n.1361+217_1361+232delinsAGAAGTTGGGGTGAGG
ENST00000391944.7:c.1956+217_1956+232delinsAGAAGTTGGGGTGAGG	ENSP00000375808.3:n.1956+217_1956+232delinsAGAAGTTGGGGTGAGG
ENST00000391945.8:c.2190+217_2190+232delinsAGAAGTTGGGGTGAGG	ENSP00000375809.3:n.2190+217_2190+232delinsAGAAGTTGGGGTGAGG
ENST00000588652.5:n.2278+217_2278+232delinsAGAAGTTGGGGTGAGG
NM_000400.3:c.2190+217_2190+232delinsAGAAGTTGGGGTGAGG , LRG_461t1:c.2190+217_2190+232delinsAGAAGTTGGGGTGAGG	NP_000391.1:n.2190+217_2190+232delinsAGAAGTTGGGGTGAGG
XM_011526611.1:c.2112+217_2112+232delinsAGAAGTTGGGGTGAGG	XP_011524913.1:n.2112+217_2112+232delinsAGAAGTTGGGGTGAGG
XM_011526611.2:c.2112+217_2112+232delinsAGAAGTTGGGGTGAGG	XP_011524913.1:n.2112+217_2112+232delinsAGAAGTTGGGGTGAGG
XM_017026467.1:c.2067+217_2067+232delinsAGAAGTTGGGGTGAGG	XP_016881956.1:n.2067+217_2067+232delinsAGAAGTTGGGGTGAGG
XR_001753633.2:n.2237+217_2237+232delinsAGAAGTTGGGGTGAGG
XR_001753634.2:n.2173+217_2173+232delinsAGAAGTTGGGGTGAGG
NM_000400.4:c.2190+217_2190+232delinsAGAAGTTGGGGTGAGG MANE Select	NP_000391.1:n.2190+217_2190+232delinsAGAAGTTGGGGTGAGG