Canonical Allele Identifier: CA2338389611

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353610_45353614delinsGCTGA , CM000681.2:g.45353610_45353614delinsGCTGA	GRCh38
NC_000019.9:g.45856868_45856872delinsGCTGA , CM000681.1:g.45856868_45856872delinsGCTGA	GRCh37
NC_000019.8:g.50548708_50548712delinsGCTGA	NCBI36
NG_007067.2:g.21974_21978delinsTCAGC , LRG_461:g.21974_21978delinsTCAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1666-280_1666-276delinsTCAGC	ENSP00000375808.4:n.1666-280_1666-276delinsTCAGC
ENST00000682414.1:c.1666-280_1666-276delinsTCAGC	ENSP00000507019.1:n.1666-280_1666-276delinsTCAGC
ENST00000682508.1:n.1695-280_1695-276delinsTCAGC
ENST00000684218.1:c.*924-280_*924-276delinsTCAGC	ENSP00000507804.1:n.*924-280_*924-276delinsTCAGC
ENST00000684264.1:n.1222-280_1222-276delinsTCAGC
ENST00000684407.1:c.1543-280_1543-276delinsTCAGC	ENSP00000507775.1:n.1543-280_1543-276delinsTCAGC
ENST00000684458.1:c.*152-280_*152-276delinsTCAGC	ENSP00000508260.1:n.*152-280_*152-276delinsTCAGC
ENST00000684468.1:n.1378-280_1378-276delinsTCAGC
ENST00000391945.10:c.1666-280_1666-276delinsTCAGC MANE Select	ENSP00000375809.4:n.1666-280_1666-276delinsTCAGC
ENST00000587376.6:c.725-280_725-276delinsTCAGC
ENST00000646507.1:n.1763-280_1763-276delinsTCAGC
ENST00000391941.6:c.1594-280_1594-276delinsTCAGC	ENSP00000375805.2:n.1594-280_1594-276delinsTCAGC
ENST00000391942.6:n.837-280_837-276delinsTCAGC
ENST00000391944.7:c.1432-280_1432-276delinsTCAGC	ENSP00000375808.3:n.1432-280_1432-276delinsTCAGC
ENST00000391945.8:c.1666-280_1666-276delinsTCAGC	ENSP00000375809.3:n.1666-280_1666-276delinsTCAGC
ENST00000587376.5:c.725-280_725-276delinsTCAGC
ENST00000588652.5:n.1754-280_1754-276delinsTCAGC
NM_000400.3:c.1666-280_1666-276delinsTCAGC , LRG_461t1:c.1666-280_1666-276delinsTCAGC	NP_000391.1:n.1666-280_1666-276delinsTCAGC
XM_011526611.1:c.1588-280_1588-276delinsTCAGC	XP_011524913.1:n.1588-280_1588-276delinsTCAGC
XR_935763.1:n.1649-280_1649-276delinsTCAGC
XM_011526611.2:c.1588-280_1588-276delinsTCAGC	XP_011524913.1:n.1588-280_1588-276delinsTCAGC
XM_017026467.1:c.1543-280_1543-276delinsTCAGC	XP_016881956.1:n.1543-280_1543-276delinsTCAGC
XR_001753633.2:n.1713-280_1713-276delinsTCAGC
XR_001753634.2:n.1649-280_1649-276delinsTCAGC
NM_000400.4:c.1666-280_1666-276delinsTCAGC MANE Select	NP_000391.1:n.1666-280_1666-276delinsTCAGC