Canonical Allele Identifier: CA2522992397

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45363924_45363925insGG , CM000681.2:g.45363924_45363925insGG	GRCh38
NC_000019.9:g.45867182_45867183insGG , CM000681.1:g.45867182_45867183insGG	GRCh37
NC_000019.8:g.50559022_50559023insGG	NCBI36
NG_007067.2:g.11664_11665insCC , LRG_461:g.11664_11665insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.950-13_950-12insCC	ENSP00000375808.4:n.950-13_950-12insCC
ENST00000682414.1:c.950-13_950-12insCC	ENSP00000507019.1:n.950-13_950-12insCC
ENST00000682508.1:n.979-13_979-12insCC
ENST00000684218.1:c.*208-13_*208-12insCC	ENSP00000507804.1:n.*208-13_*208-12insCC
ENST00000684407.1:c.827-13_827-12insCC	ENSP00000507775.1:n.827-13_827-12insCC
ENST00000684458.1:c.950-13_950-12insCC	ENSP00000508260.1:n.950-13_950-12insCC
ENST00000391945.10:c.950-13_950-12insCC MANE Select	ENSP00000375809.4:n.950-13_950-12insCC
ENST00000587376.6:c.73-13_73-12insCC
ENST00000646507.1:n.1047-13_1047-12insCC
ENST00000391941.6:c.878-13_878-12insCC	ENSP00000375805.2:n.878-13_878-12insCC
ENST00000391944.7:c.716-13_716-12insCC	ENSP00000375808.3:n.716-13_716-12insCC
ENST00000391945.8:c.950-13_950-12insCC	ENSP00000375809.3:n.950-13_950-12insCC
ENST00000485403.6:c.878-13_878-12insCC	ENSP00000431229.2:n.878-13_878-12insCC
ENST00000587376.5:c.73-13_73-12insCC
NM_000400.3:c.950-13_950-12insCC , LRG_461t1:c.950-13_950-12insCC	NP_000391.1:n.950-13_950-12insCC
NM_001130867.1:c.878-13_878-12insCC	NP_001124339.1:n.878-13_878-12insCC
XM_011526611.1:c.872-13_872-12insCC	XP_011524913.1:n.872-13_872-12insCC
XR_935763.1:n.997-13_997-12insCC
XM_011526611.2:c.872-13_872-12insCC	XP_011524913.1:n.872-13_872-12insCC
XM_017026467.1:c.827-13_827-12insCC	XP_016881956.1:n.827-13_827-12insCC
XR_001753633.2:n.997-13_997-12insCC
XR_001753634.2:n.997-13_997-12insCC
NM_000400.4:c.950-13_950-12insCC MANE Select	NP_000391.1:n.950-13_950-12insCC
NM_001130867.2:c.878-13_878-12insCC	NP_001124339.1:n.878-13_878-12insCC