Canonical Allele Identifier: CA2338388470

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45351985_45352000delinsCAACTTCTCTCACCCT , CM000681.2:g.45351985_45352000delinsCAACTTCTCTCACCCT	GRCh38
NC_000019.9:g.45855243_45855258delinsCAACTTCTCTCACCCT , CM000681.1:g.45855243_45855258delinsCAACTTCTCTCACCCT	GRCh37
NC_000019.8:g.50547083_50547098delinsCAACTTCTCTCACCCT	NCBI36
NG_007067.2:g.23588_23603delinsAGGGTGAGAGAAGTTG , LRG_461:g.23588_23603delinsAGGGTGAGAGAAGTTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2399_2414delinsAGGGTGAGAGAAGTTG	ENSP00000375808.4:p.Gln800=
ENST00000682414.1:c.2190+209_2190+224delinsAGGGTGAGAGAAGTTG	ENSP00000507019.1:n.2190+209_2190+224delinsAGGGTGAGAGAAGTTG
ENST00000682508.1:n.2219+209_2219+224delinsAGGGTGAGAGAAGTTG
ENST00000684218.1:c.*1448+209_*1448+224delinsAGGGTGAGAGAAGTTG	ENSP00000507804.1:n.*1448+209_*1448+224delinsAGGGTGAGAGAAGTTG...
ENST00000684264.1:n.1746+209_1746+224delinsAGGGTGAGAGAAGTTG
ENST00000684407.1:c.2067+209_2067+224delinsAGGGTGAGAGAAGTTG	ENSP00000507775.1:n.2067+209_2067+224delinsAGGGTGAGAGAAGTTG
ENST00000684458.1:c.*676+209_*676+224delinsAGGGTGAGAGAAGTTG	ENSP00000508260.1:n.*676+209_*676+224delinsAGGGTGAGAGAAGTTG
ENST00000684468.1:n.1902+209_1902+224delinsAGGGTGAGAGAAGTTG
ENST00000391945.10:c.2190+209_2190+224delinsAGGGTGAGAGAAGTTG MANE Select	ENSP00000375809.4:n.2190+209_2190+224delinsAGGGTGAGAGAAGTTG
ENST00000646507.1:n.2287+209_2287+224delinsAGGGTGAGAGAAGTTG
ENST00000391942.6:n.1361+209_1361+224delinsAGGGTGAGAGAAGTTG
ENST00000391944.7:c.1956+209_1956+224delinsAGGGTGAGAGAAGTTG	ENSP00000375808.3:n.1956+209_1956+224delinsAGGGTGAGAGAAGTTG
ENST00000391945.8:c.2190+209_2190+224delinsAGGGTGAGAGAAGTTG	ENSP00000375809.3:n.2190+209_2190+224delinsAGGGTGAGAGAAGTTG
ENST00000588652.5:n.2278+209_2278+224delinsAGGGTGAGAGAAGTTG
NM_000400.3:c.2190+209_2190+224delinsAGGGTGAGAGAAGTTG , LRG_461t1:c.2190+209_2190+224delinsAGGGTGAGAGAAGTTG	NP_000391.1:n.2190+209_2190+224delinsAGGGTGAGAGAAGTTG
XM_011526611.1:c.2112+209_2112+224delinsAGGGTGAGAGAAGTTG	XP_011524913.1:n.2112+209_2112+224delinsAGGGTGAGAGAAGTTG
XM_011526611.2:c.2112+209_2112+224delinsAGGGTGAGAGAAGTTG	XP_011524913.1:n.2112+209_2112+224delinsAGGGTGAGAGAAGTTG
XM_017026467.1:c.2067+209_2067+224delinsAGGGTGAGAGAAGTTG	XP_016881956.1:n.2067+209_2067+224delinsAGGGTGAGAGAAGTTG
XR_001753633.2:n.2237+209_2237+224delinsAGGGTGAGAGAAGTTG
XR_001753634.2:n.2173+209_2173+224delinsAGGGTGAGAGAAGTTG
NM_000400.4:c.2190+209_2190+224delinsAGGGTGAGAGAAGTTG MANE Select	NP_000391.1:n.2190+209_2190+224delinsAGGGTGAGAGAAGTTG