Canonical Allele Identifier: CA9513295

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45357323C>T , CM000681.2:g.45357323C>T	GRCh38
NC_000019.9:g.45860581C>T , CM000681.1:g.45860581C>T	GRCh37
NC_000019.8:g.50552421C>T	NCBI36
NG_007067.2:g.18265G>A , LRG_461:g.18265G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000400.4:c.1426G>A MANE Select	NP_000391.1:p.Val476Ile
ENST00000391945.10:c.1426G>A MANE Select	ENSP00000375809.4:p.Val476Ile
NM_000400.3:c.1426G>A , LRG_461t1:c.1426G>A	NP_000391.1:p.Val476Ile
ENST00000391941.6:c.1354G>A	ENSP00000375805.2:p.Val452Ile
ENST00000391942.6:n.597G>A
ENST00000391944.7:c.1192G>A	ENSP00000375808.3:p.Val398Ile
ENST00000391944.8:c.1426G>A	ENSP00000375808.4:p.Val476Ile
ENST00000391945.8:c.1426G>A	ENSP00000375809.3:p.Val476Ile
ENST00000587376.5:c.549G>A
ENST00000587376.6:c.549G>A
ENST00000588652.5:n.1514G>A
ENST00000646507.1:n.1523G>A
ENST00000682414.1:c.1426G>A	ENSP00000507019.1:p.Val476Ile
ENST00000682508.1:n.1455G>A
ENST00000684218.1:c.*684G>A	ENSP00000507804.1:n.*684G>A
ENST00000684264.1:n.982G>A
ENST00000684407.1:c.1303G>A	ENSP00000507775.1:p.Val435Ile
ENST00000684458.1:c.1356G>A	ENSP00000508260.1:p.Pro452=
ENST00000684468.1:n.1202G>A
XM_011526611.1:c.1348G>A	XP_011524913.1:p.Val450Ile
XM_011526611.2:c.1348G>A	XP_011524913.1:p.Val450Ile
XM_017026467.1:c.1303G>A	XP_016881956.1:p.Val435Ile
XR_001753633.2:n.1473G>A
XR_001753634.2:n.1473G>A
XR_935763.1:n.1473G>A