Canonical Allele Identifier: CA2338388907

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352575_45352582delinsGTGGCGCA , CM000681.2:g.45352575_45352582delinsGTGGCGCA	GRCh38
NC_000019.9:g.45855833_45855840delinsGTGGCGCA , CM000681.1:g.45855833_45855840delinsGTGGCGCA	GRCh37
NC_000019.8:g.50547673_50547680delinsGTGGCGCA	NCBI36
NG_007067.2:g.23006_23013delinsTGCGCCAC , LRG_461:g.23006_23013delinsTGCGCCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1970_1977delinsTGCGCCAC	ENSP00000375808.4:p.Met657=
ENST00000682414.1:c.1970_1977delinsTGCGCCAC	ENSP00000507019.1:p.Met657=
ENST00000682508.1:n.1999_2006delinsTGCGCCAC
ENST00000684218.1:c.*1228_*1235delinsTGCGCCAC	ENSP00000507804.1:n.*1228_*1235delinsTGCGCCAC
ENST00000684264.1:n.1526_1533delinsTGCGCCAC
ENST00000684407.1:c.1847_1854delinsTGCGCCAC	ENSP00000507775.1:p.Met616=
ENST00000684458.1:c.*456_*463delinsTGCGCCAC	ENSP00000508260.1:n.*456_*463delinsTGCGCCAC
ENST00000684468.1:n.1682_1689delinsTGCGCCAC
ENST00000391945.10:c.1970_1977delinsTGCGCCAC MANE Select	ENSP00000375809.4:p.Met657=
ENST00000646507.1:n.2067_2074delinsTGCGCCAC
ENST00000391941.6:c.1898_1905delinsTGCGCCAC	ENSP00000375805.2:p.Met633=
ENST00000391942.6:n.1141_1148delinsTGCGCCAC
ENST00000391944.7:c.1736_1743delinsTGCGCCAC	ENSP00000375808.3:p.Met579=
ENST00000391945.8:c.1970_1977delinsTGCGCCAC	ENSP00000375809.3:p.Met657=
ENST00000588652.5:n.2058_2065delinsTGCGCCAC
NM_000400.3:c.1970_1977delinsTGCGCCAC , LRG_461t1:c.1970_1977delinsTGCGCCAC	NP_000391.1:p.Met657=
XM_011526611.1:c.1892_1899delinsTGCGCCAC	XP_011524913.1:p.Met631=
XM_011526611.2:c.1892_1899delinsTGCGCCAC	XP_011524913.1:p.Met631=
XM_017026467.1:c.1847_1854delinsTGCGCCAC	XP_016881956.1:p.Met616=
XR_001753633.2:n.2017_2024delinsTGCGCCAC
XR_001753634.2:n.1953_1960delinsTGCGCCAC
NM_000400.4:c.1970_1977delinsTGCGCCAC MANE Select	NP_000391.1:p.Met657=