Canonical Allele Identifier: CA2814540050

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352246_45352253del , CM000681.2:g.45352246_45352253del	GRCh38
NC_000019.9:g.45855504_45855511del , CM000681.1:g.45855504_45855511del	GRCh37
NC_000019.8:g.50547344_50547351del	NCBI36
NG_007067.2:g.23337_23344del , LRG_461:g.23337_23344del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2148_2155del	ENSP00000375808.4:p.Ala717LeufsTer?
ENST00000682414.1:c.2148_2155del	ENSP00000507019.1:p.Ala717LeufsTer?
ENST00000682508.1:n.2177_2184del
ENST00000684218.1:c.*1406_*1413del	ENSP00000507804.1:n.*1406_*1413del
ENST00000684264.1:n.1704_1711del
ENST00000684407.1:c.2025_2032del	ENSP00000507775.1:p.Ala676LeufsTer?
ENST00000684458.1:c.*634_*641del	ENSP00000508260.1:n.*634_*641del
ENST00000684468.1:n.1860_1867del
ENST00000391945.10:c.2148_2155del MANE Select	ENSP00000375809.4:p.Ala717LeufsTer?
ENST00000646507.1:n.2245_2252del
ENST00000391941.6:c.2076_2083del	ENSP00000375805.2:p.Ala693LeufsTer?
ENST00000391942.6:n.1319_1326del
ENST00000391944.7:c.1914_1921del	ENSP00000375808.3:p.Ala639LeufsTer?
ENST00000391945.8:c.2148_2155del	ENSP00000375809.3:p.Ala717LeufsTer?
ENST00000588652.5:n.2236_2243del
NM_000400.3:c.2148_2155del , LRG_461t1:c.2148_2155del	NP_000391.1:p.Ala717LeufsTer?
XM_011526611.1:c.2070_2077del	XP_011524913.1:p.Ala691LeufsTer?
XM_011526611.2:c.2070_2077del	XP_011524913.1:p.Ala691LeufsTer?
XM_017026467.1:c.2025_2032del	XP_016881956.1:p.Ala676LeufsTer?
XR_001753633.2:n.2195_2202del
XR_001753634.2:n.2131_2138del
NM_000400.4:c.2148_2155del MANE Select	NP_000391.1:p.Ala717LeufsTer?