Canonical Allele Identifier: CA2695198227

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 2675028
• ClinVar RCV Id: RCV003467910

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352595_45352619dup , CM000681.2:g.45352595_45352619dup	GRCh38
NC_000019.9:g.45855853_45855877dup , CM000681.1:g.45855853_45855877dup	GRCh37
NC_000019.8:g.50547693_50547717dup	NCBI36
NG_007067.2:g.22970_22994dup , LRG_461:g.22970_22994dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1934_1958dup	ENSP00000375808.4:p.Phe654AspfsTer3
ENST00000682414.1:c.1934_1958dup	ENSP00000507019.1:p.Phe654AspfsTer3
ENST00000682508.1:n.1963_1987dup
ENST00000684218.1:c.*1192_*1216dup	ENSP00000507804.1:n.*1192_*1216dup
ENST00000684264.1:n.1490_1514dup
ENST00000684407.1:c.1811_1835dup	ENSP00000507775.1:p.Phe613AspfsTer3
ENST00000684458.1:c.*420_*444dup	ENSP00000508260.1:n.*420_*444dup
ENST00000684468.1:n.1646_1670dup
ENST00000391945.10:c.1934_1958dup MANE Select	ENSP00000375809.4:p.Phe654AspfsTer3
ENST00000646507.1:n.2031_2055dup
ENST00000391941.6:c.1862_1886dup	ENSP00000375805.2:p.Phe630AspfsTer3
ENST00000391942.6:n.1105_1129dup
ENST00000391944.7:c.1700_1724dup	ENSP00000375808.3:p.Phe576AspfsTer3
ENST00000391945.8:c.1934_1958dup	ENSP00000375809.3:p.Phe654AspfsTer3
ENST00000588652.5:n.2022_2046dup
NM_000400.3:c.1934_1958dup , LRG_461t1:c.1934_1958dup	NP_000391.1:p.Phe654AspfsTer3
XM_011526611.1:c.1856_1880dup	XP_011524913.1:p.Phe628AspfsTer3
XM_011526611.2:c.1856_1880dup	XP_011524913.1:p.Phe628AspfsTer3
XM_017026467.1:c.1811_1835dup	XP_016881956.1:p.Phe613AspfsTer3
XR_001753633.2:n.1981_2005dup
XR_001753634.2:n.1917_1941dup
NM_000400.4:c.1934_1958dup MANE Select	NP_000391.1:p.Phe654AspfsTer3