Canonical Allele Identifier: CA2338388539

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352065_45352075delinsGGCACGTAGAT , CM000681.2:g.45352065_45352075delinsGGCACGTAGAT	GRCh38
NC_000019.9:g.45855323_45855333delinsGGCACGTAGAT , CM000681.1:g.45855323_45855333delinsGGCACGTAGAT	GRCh37
NC_000019.8:g.50547163_50547173delinsGGCACGTAGAT	NCBI36
NG_007067.2:g.23513_23523delinsATCTACGTGCC , LRG_461:g.23513_23523delinsATCTACGTGCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2324_2334delinsATCTACGTGCC	ENSP00000375808.4:p.His775=
ENST00000682414.1:c.2190+134_2190+144delinsATCTACGTGCC	ENSP00000507019.1:n.2190+134_2190+144deli...
ENST00000682508.1:n.2219+134_2219+144delinsATCTACGTGCC
ENST00000684218.1:c.*1448+134_*1448+144delinsATCTACGTGCC	ENSP00000507804.1:n.*1448+134_*1448+144de...
ENST00000684264.1:n.1746+134_1746+144delinsATCTACGTGCC
ENST00000684407.1:c.2067+134_2067+144delinsATCTACGTGCC	ENSP00000507775.1:n.2067+134_2067+144deli...
ENST00000684458.1:c.*676+134_*676+144delinsATCTACGTGCC	ENSP00000508260.1:n.*676+134_*676+144deli...
ENST00000684468.1:n.1902+134_1902+144delinsATCTACGTGCC
ENST00000391945.10:c.2190+134_2190+144delinsATCTACGTGCC MANE Select	ENSP00000375809.4:n.2190+134_2190+144deli...
ENST00000646507.1:n.2287+134_2287+144delinsATCTACGTGCC
ENST00000391942.6:n.1361+134_1361+144delinsATCTACGTGCC
ENST00000391944.7:c.1956+134_1956+144delinsATCTACGTGCC	ENSP00000375808.3:n.1956+134_1956+144deli...
ENST00000391945.8:c.2190+134_2190+144delinsATCTACGTGCC	ENSP00000375809.3:n.2190+134_2190+144deli...
ENST00000588652.5:n.2278+134_2278+144delinsATCTACGTGCC
NM_000400.3:c.2190+134_2190+144delinsATCTACGTGCC , LRG_461t1:c.2190+134_2190+144delinsATCTACGTGCC	NP_000391.1:n.2190+134_2190+144delinsATCT...
XM_011526611.1:c.2112+134_2112+144delinsATCTACGTGCC	XP_011524913.1:n.2112+134_2112+144delinsA...
XM_011526611.2:c.2112+134_2112+144delinsATCTACGTGCC	XP_011524913.1:n.2112+134_2112+144delinsA...
XM_017026467.1:c.2067+134_2067+144delinsATCTACGTGCC	XP_016881956.1:n.2067+134_2067+144delinsA...
XR_001753633.2:n.2237+134_2237+144delinsATCTACGTGCC
XR_001753634.2:n.2173+134_2173+144delinsATCTACGTGCC
NM_000400.4:c.2190+134_2190+144delinsATCTACGTGCC MANE Select	NP_000391.1:n.2190+134_2190+144delinsATCT...