Canonical Allele Identifier: CA2338388638

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352175_45352186delinsTGGGAGGGTGCC , CM000681.2:g.45352175_45352186delinsTGGGAGGGTGCC	GRCh38
NC_000019.9:g.45855433_45855444delinsTGGGAGGGTGCC , CM000681.1:g.45855433_45855444delinsTGGGAGGGTGCC	GRCh37
NC_000019.8:g.50547273_50547284delinsTGGGAGGGTGCC	NCBI36
NG_007067.2:g.23402_23413delinsGGCACCCTCCCA , LRG_461:g.23402_23413delinsGGCACCCTCCCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2213_2224delinsGGCACCCTCCCA	ENSP00000375808.4:p.Arg738=
ENST00000682414.1:c.2190+23_2190+34delinsGGCACCCTCCCA	ENSP00000507019.1:n.2190+23_2190+34delins...
ENST00000682508.1:n.2219+23_2219+34delinsGGCACCCTCCCA
ENST00000684218.1:c.*1448+23_*1448+34delinsGGCACCCTCCCA	ENSP00000507804.1:n.*1448+23_*1448+34deli...
ENST00000684264.1:n.1746+23_1746+34delinsGGCACCCTCCCA
ENST00000684407.1:c.2067+23_2067+34delinsGGCACCCTCCCA	ENSP00000507775.1:n.2067+23_2067+34delins...
ENST00000684458.1:c.*676+23_*676+34delinsGGCACCCTCCCA	ENSP00000508260.1:n.*676+23_*676+34delins...
ENST00000684468.1:n.1902+23_1902+34delinsGGCACCCTCCCA
ENST00000391945.10:c.2190+23_2190+34delinsGGCACCCTCCCA MANE Select	ENSP00000375809.4:n.2190+23_2190+34delins...
ENST00000646507.1:n.2287+23_2287+34delinsGGCACCCTCCCA
ENST00000391942.6:n.1361+23_1361+34delinsGGCACCCTCCCA
ENST00000391944.7:c.1956+23_1956+34delinsGGCACCCTCCCA	ENSP00000375808.3:n.1956+23_1956+34delins...
ENST00000391945.8:c.2190+23_2190+34delinsGGCACCCTCCCA	ENSP00000375809.3:n.2190+23_2190+34delins...
ENST00000588652.5:n.2278+23_2278+34delinsGGCACCCTCCCA
NM_000400.3:c.2190+23_2190+34delinsGGCACCCTCCCA , LRG_461t1:c.2190+23_2190+34delinsGGCACCCTCCCA	NP_000391.1:n.2190+23_2190+34delinsGGCACC...
XM_011526611.1:c.2112+23_2112+34delinsGGCACCCTCCCA	XP_011524913.1:n.2112+23_2112+34delinsGGC...
XM_011526611.2:c.2112+23_2112+34delinsGGCACCCTCCCA	XP_011524913.1:n.2112+23_2112+34delinsGGC...
XM_017026467.1:c.2067+23_2067+34delinsGGCACCCTCCCA	XP_016881956.1:n.2067+23_2067+34delinsGGC...
XR_001753633.2:n.2237+23_2237+34delinsGGCACCCTCCCA
XR_001753634.2:n.2173+23_2173+34delinsGGCACCCTCCCA
NM_000400.4:c.2190+23_2190+34delinsGGCACCCTCCCA MANE Select	NP_000391.1:n.2190+23_2190+34delinsGGCACC...