Canonical Allele Identifier: CA2338388693

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352247_45352250delinsTGGC , CM000681.2:g.45352247_45352250delinsTGGC	GRCh38
NC_000019.9:g.45855505_45855508delinsTGGC , CM000681.1:g.45855505_45855508delinsTGGC	GRCh37
NC_000019.8:g.50547345_50547348delinsTGGC	NCBI36
NG_007067.2:g.23338_23341delinsGCCA , LRG_461:g.23338_23341delinsGCCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2149_2152delinsGCCA	ENSP00000375808.4:p.Ala717=
ENST00000682414.1:c.2149_2152delinsGCCA	ENSP00000507019.1:p.Ala717=
ENST00000682508.1:n.2178_2181delinsGCCA
ENST00000684218.1:c.*1407_*1410delinsGCCA	ENSP00000507804.1:n.*1407_*1410delinsGCCA...
ENST00000684264.1:n.1705_1708delinsGCCA
ENST00000684407.1:c.2026_2029delinsGCCA	ENSP00000507775.1:p.Ala676=
ENST00000684458.1:c.*635_*638delinsGCCA	ENSP00000508260.1:n.*635_*638delinsGCCA
ENST00000684468.1:n.1861_1864delinsGCCA
ENST00000391945.10:c.2149_2152delinsGCCA MANE Select	ENSP00000375809.4:p.Ala717=
ENST00000646507.1:n.2246_2249delinsGCCA
ENST00000391941.6:c.2077_2080delinsGCCA	ENSP00000375805.2:p.Ala693=
ENST00000391942.6:n.1320_1323delinsGCCA
ENST00000391944.7:c.1915_1918delinsGCCA	ENSP00000375808.3:p.Ala639=
ENST00000391945.8:c.2149_2152delinsGCCA	ENSP00000375809.3:p.Ala717=
ENST00000588652.5:n.2237_2240delinsGCCA
NM_000400.3:c.2149_2152delinsGCCA , LRG_461t1:c.2149_2152delinsGCCA	NP_000391.1:p.Ala717=
XM_011526611.1:c.2071_2074delinsGCCA	XP_011524913.1:p.Ala691=
XM_011526611.2:c.2071_2074delinsGCCA	XP_011524913.1:p.Ala691=
XM_017026467.1:c.2026_2029delinsGCCA	XP_016881956.1:p.Ala676=
XR_001753633.2:n.2196_2199delinsGCCA
XR_001753634.2:n.2132_2135delinsGCCA
NM_000400.4:c.2149_2152delinsGCCA MANE Select	NP_000391.1:p.Ala717=