Canonical Allele Identifier: CA2553907910

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45363932_45363933insCGGGGTC , CM000681.2:g.45363932_45363933insCGGGGTC	GRCh38
NC_000019.9:g.45867190_45867191insCGGGGTC , CM000681.1:g.45867190_45867191insCGGGGTC	GRCh37
NC_000019.8:g.50559030_50559031insCGGGGTC	NCBI36
NG_007067.2:g.11656_11657insACCCCGG , LRG_461:g.11656_11657insACCCCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.950-21_950-20insACCCCGG	ENSP00000375808.4:n.950-21_950-20insACCCCGG
ENST00000682414.1:c.950-21_950-20insACCCCGG	ENSP00000507019.1:n.950-21_950-20insACCCCGG
ENST00000682508.1:n.979-21_979-20insACCCCGG
ENST00000684218.1:c.*208-21_*208-20insACCCCGG	ENSP00000507804.1:n.*208-21_*208-20insACCCCGG
ENST00000684407.1:c.827-21_827-20insACCCCGG	ENSP00000507775.1:n.827-21_827-20insACCCCGG
ENST00000684458.1:c.950-21_950-20insACCCCGG	ENSP00000508260.1:n.950-21_950-20insACCCCGG
ENST00000391945.10:c.950-21_950-20insACCCCGG MANE Select	ENSP00000375809.4:n.950-21_950-20insACCCCGG
ENST00000587376.6:c.73-21_73-20insACCCCGG
ENST00000646507.1:n.1047-21_1047-20insACCCCGG
ENST00000391941.6:c.878-21_878-20insACCCCGG	ENSP00000375805.2:n.878-21_878-20insACCCCGG
ENST00000391944.7:c.716-21_716-20insACCCCGG	ENSP00000375808.3:n.716-21_716-20insACCCCGG
ENST00000391945.8:c.950-21_950-20insACCCCGG	ENSP00000375809.3:n.950-21_950-20insACCCCGG
ENST00000485403.6:c.878-21_878-20insACCCCGG	ENSP00000431229.2:n.878-21_878-20insACCCCGG
ENST00000587376.5:c.73-21_73-20insACCCCGG
NM_000400.3:c.950-21_950-20insACCCCGG , LRG_461t1:c.950-21_950-20insACCCCGG	NP_000391.1:n.950-21_950-20insACCCCGG
NM_001130867.1:c.878-21_878-20insACCCCGG	NP_001124339.1:n.878-21_878-20insACCCCGG
XM_011526611.1:c.872-21_872-20insACCCCGG	XP_011524913.1:n.872-21_872-20insACCCCGG
XR_935763.1:n.997-21_997-20insACCCCGG
XM_011526611.2:c.872-21_872-20insACCCCGG	XP_011524913.1:n.872-21_872-20insACCCCGG
XM_017026467.1:c.827-21_827-20insACCCCGG	XP_016881956.1:n.827-21_827-20insACCCCGG
XR_001753633.2:n.997-21_997-20insACCCCGG
XR_001753634.2:n.997-21_997-20insACCCCGG
NM_000400.4:c.950-21_950-20insACCCCGG MANE Select	NP_000391.1:n.950-21_950-20insACCCCGG
NM_001130867.2:c.878-21_878-20insACCCCGG	NP_001124339.1:n.878-21_878-20insACCCCGG