Canonical Allele Identifier: CA2338388494

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352016_45352023delinsCCTGCTGG , CM000681.2:g.45352016_45352023delinsCCTGCTGG	GRCh38
NC_000019.9:g.45855274_45855281delinsCCTGCTGG , CM000681.1:g.45855274_45855281delinsCCTGCTGG	GRCh37
NC_000019.8:g.50547114_50547121delinsCCTGCTGG	NCBI36
NG_007067.2:g.23565_23572delinsCCAGCAGG , LRG_461:g.23565_23572delinsCCAGCAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2376_2383delinsCCAGCAGG	ENSP00000375808.4:p.Cys792=
ENST00000682414.1:c.2190+186_2190+193delinsCCAGCAGG	ENSP00000507019.1:n.2190+186_2190+193delinsCCAGCAGG
ENST00000682508.1:n.2219+186_2219+193delinsCCAGCAGG
ENST00000684218.1:c.*1448+186_*1448+193delinsCCAGCAGG	ENSP00000507804.1:n.*1448+186_*1448+193delinsCCAGCAGG
ENST00000684264.1:n.1746+186_1746+193delinsCCAGCAGG
ENST00000684407.1:c.2067+186_2067+193delinsCCAGCAGG	ENSP00000507775.1:n.2067+186_2067+193delinsCCAGCAGG
ENST00000684458.1:c.*676+186_*676+193delinsCCAGCAGG	ENSP00000508260.1:n.*676+186_*676+193delinsCCAGCAGG
ENST00000684468.1:n.1902+186_1902+193delinsCCAGCAGG
ENST00000391945.10:c.2190+186_2190+193delinsCCAGCAGG MANE Select	ENSP00000375809.4:n.2190+186_2190+193delinsCCAGCAGG
ENST00000646507.1:n.2287+186_2287+193delinsCCAGCAGG
ENST00000391942.6:n.1361+186_1361+193delinsCCAGCAGG
ENST00000391944.7:c.1956+186_1956+193delinsCCAGCAGG	ENSP00000375808.3:n.1956+186_1956+193delinsCCAGCAGG
ENST00000391945.8:c.2190+186_2190+193delinsCCAGCAGG	ENSP00000375809.3:n.2190+186_2190+193delinsCCAGCAGG
ENST00000588652.5:n.2278+186_2278+193delinsCCAGCAGG
NM_000400.3:c.2190+186_2190+193delinsCCAGCAGG , LRG_461t1:c.2190+186_2190+193delinsCCAGCAGG	NP_000391.1:n.2190+186_2190+193delinsCCAGCAGG
XM_011526611.1:c.2112+186_2112+193delinsCCAGCAGG	XP_011524913.1:n.2112+186_2112+193delinsCCAGCAGG
XM_011526611.2:c.2112+186_2112+193delinsCCAGCAGG	XP_011524913.1:n.2112+186_2112+193delinsCCAGCAGG
XM_017026467.1:c.2067+186_2067+193delinsCCAGCAGG	XP_016881956.1:n.2067+186_2067+193delinsCCAGCAGG
XR_001753633.2:n.2237+186_2237+193delinsCCAGCAGG
XR_001753634.2:n.2173+186_2173+193delinsCCAGCAGG
NM_000400.4:c.2190+186_2190+193delinsCCAGCAGG MANE Select	NP_000391.1:n.2190+186_2190+193delinsCCAGCAGG