Canonical Allele Identifier: CA2840377884

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45357289dup , CM000681.2:g.45357289dup	GRCh38
NC_000019.9:g.45860547dup , CM000681.1:g.45860547dup	GRCh37
NC_000019.8:g.50552387dup	NCBI36
NG_007067.2:g.18301dup , LRG_461:g.18301dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1462dup	ENSP00000375808.4:p.Val488GlyfsTer13
ENST00000682414.1:c.1462dup	ENSP00000507019.1:p.Val488GlyfsTer13
ENST00000682508.1:n.1491dup
ENST00000684218.1:c.*720dup	ENSP00000507804.1:n.*720dup
ENST00000684264.1:n.1018dup
ENST00000684407.1:c.1339dup	ENSP00000507775.1:p.Val447GlyfsTer13
ENST00000684458.1:c.*12dup	ENSP00000508260.1:n.*12dup
ENST00000684468.1:n.1238dup
ENST00000391945.10:c.1462dup MANE Select	ENSP00000375809.4:p.Val488GlyfsTer13
ENST00000587376.6:c.585dup
ENST00000646507.1:n.1559dup
ENST00000391941.6:c.1390dup	ENSP00000375805.2:p.Val464GlyfsTer13
ENST00000391942.6:n.633dup
ENST00000391944.7:c.1228dup	ENSP00000375808.3:p.Val410GlyfsTer13
ENST00000391945.8:c.1462dup	ENSP00000375809.3:p.Val488GlyfsTer13
ENST00000587376.5:c.585dup
ENST00000588652.5:n.1550dup
NM_000400.3:c.1462dup , LRG_461t1:c.1462dup	NP_000391.1:p.Val488GlyfsTer13
XM_011526611.1:c.1384dup	XP_011524913.1:p.Val462GlyfsTer13
XR_935763.1:n.1509dup
XM_011526611.2:c.1384dup	XP_011524913.1:p.Val462GlyfsTer13
XM_017026467.1:c.1339dup	XP_016881956.1:p.Val447GlyfsTer13
XR_001753633.2:n.1509dup
XR_001753634.2:n.1509dup
NM_000400.4:c.1462dup MANE Select	NP_000391.1:p.Val488GlyfsTer13