Canonical Allele Identifier: CA2576815931

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352155_45352159dup , CM000681.2:g.45352155_45352159dup	GRCh38
NC_000019.9:g.45855413_45855417dup , CM000681.1:g.45855413_45855417dup	GRCh37
NC_000019.8:g.50547253_50547257dup	NCBI36
NG_007067.2:g.23429_23433dup , LRG_461:g.23429_23433dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2240_2244dup	ENSP00000375808.4:p.Lys749ProfsTer?
ENST00000682414.1:c.2190+50_2190+54dup	ENSP00000507019.1:n.2190+50_2190+54dup
ENST00000682508.1:n.2219+50_2219+54dup
ENST00000684218.1:c.*1448+50_*1448+54dup	ENSP00000507804.1:n.*1448+50_*1448+54dup
ENST00000684264.1:n.1746+50_1746+54dup
ENST00000684407.1:c.2067+50_2067+54dup	ENSP00000507775.1:n.2067+50_2067+54dup
ENST00000684458.1:c.*676+50_*676+54dup	ENSP00000508260.1:n.*676+50_*676+54dup
ENST00000684468.1:n.1902+50_1902+54dup
ENST00000391945.10:c.2190+50_2190+54dup MANE Select	ENSP00000375809.4:n.2190+50_2190+54dup
ENST00000646507.1:n.2287+50_2287+54dup
ENST00000391942.6:n.1361+50_1361+54dup
ENST00000391944.7:c.1956+50_1956+54dup	ENSP00000375808.3:n.1956+50_1956+54dup
ENST00000391945.8:c.2190+50_2190+54dup	ENSP00000375809.3:n.2190+50_2190+54dup
ENST00000588652.5:n.2278+50_2278+54dup
NM_000400.3:c.2190+50_2190+54dup , LRG_461t1:c.2190+50_2190+54dup	NP_000391.1:n.2190+50_2190+54dup
XM_011526611.1:c.2112+50_2112+54dup	XP_011524913.1:n.2112+50_2112+54dup
XM_011526611.2:c.2112+50_2112+54dup	XP_011524913.1:n.2112+50_2112+54dup
XM_017026467.1:c.2067+50_2067+54dup	XP_016881956.1:n.2067+50_2067+54dup
XR_001753633.2:n.2237+50_2237+54dup
XR_001753634.2:n.2173+50_2173+54dup
NM_000400.4:c.2190+50_2190+54dup MANE Select	NP_000391.1:n.2190+50_2190+54dup