Canonical Allele Identifier: CA2695228886

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352575_45352581dup , CM000681.2:g.45352575_45352581dup	GRCh38
NC_000019.9:g.45855833_45855839dup , CM000681.1:g.45855833_45855839dup	GRCh37
NC_000019.8:g.50547673_50547679dup	NCBI36
NG_007067.2:g.23010_23016dup , LRG_461:g.23010_23016dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1974_1980dup	ENSP00000375808.4:p.Ala661ProfsTer?
ENST00000682414.1:c.1974_1980dup	ENSP00000507019.1:p.Ala661ProfsTer?
ENST00000682508.1:n.2003_2009dup
ENST00000684218.1:c.*1232_*1238dup	ENSP00000507804.1:n.*1232_*1238dup
ENST00000684264.1:n.1530_1536dup
ENST00000684407.1:c.1851_1857dup	ENSP00000507775.1:p.Ala620ProfsTer?
ENST00000684458.1:c.*460_*466dup	ENSP00000508260.1:n.*460_*466dup
ENST00000684468.1:n.1686_1692dup
ENST00000391945.10:c.1974_1980dup MANE Select	ENSP00000375809.4:p.Ala661ProfsTer?
ENST00000646507.1:n.2071_2077dup
ENST00000391941.6:c.1902_1908dup	ENSP00000375805.2:p.Ala637ProfsTer?
ENST00000391942.6:n.1145_1151dup
ENST00000391944.7:c.1740_1746dup	ENSP00000375808.3:p.Ala583ProfsTer?
ENST00000391945.8:c.1974_1980dup	ENSP00000375809.3:p.Ala661ProfsTer?
ENST00000588652.5:n.2062_2068dup
NM_000400.3:c.1974_1980dup , LRG_461t1:c.1974_1980dup	NP_000391.1:p.Ala661ProfsTer?
XM_011526611.1:c.1896_1902dup	XP_011524913.1:p.Ala635ProfsTer?
XM_011526611.2:c.1896_1902dup	XP_011524913.1:p.Ala635ProfsTer?
XM_017026467.1:c.1851_1857dup	XP_016881956.1:p.Ala620ProfsTer?
XR_001753633.2:n.2021_2027dup
XR_001753634.2:n.1957_1963dup
NM_000400.4:c.1974_1980dup MANE Select	NP_000391.1:p.Ala661ProfsTer?