Canonical Allele Identifier: CA9513791

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45365091C>T , CM000681.2:g.45365091C>T	GRCh38
NC_000019.9:g.45868349C>T , CM000681.1:g.45868349C>T	GRCh37
NC_000019.8:g.50560189C>T	NCBI36
NG_007067.2:g.10497G>A , LRG_461:g.10497G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000400.4:c.428G>A MANE Select	NP_000391.1:p.Arg143Gln
ENST00000391945.10:c.428G>A MANE Select	ENSP00000375809.4:p.Arg143Gln
NM_000400.3:c.428G>A , LRG_461t1:c.428G>A	NP_000391.1:p.Arg143Gln
NM_001130867.1:c.356G>A	NP_001124339.1:p.Arg119Gln
NM_001130867.2:c.356G>A	NP_001124339.1:p.Arg119Gln
ENST00000391941.6:c.356G>A	ENSP00000375805.2:p.Arg119Gln
ENST00000391944.7:c.361-544G>A	ENSP00000375808.3:n.361-544G>A
ENST00000391944.8:c.428G>A	ENSP00000375808.4:p.Arg143Gln
ENST00000391945.8:c.428G>A	ENSP00000375809.3:p.Arg143Gln
ENST00000485403.6:c.356G>A	ENSP00000431229.2:p.Arg119Gln
ENST00000586131.5:c.356G>A	ENSP00000464887.1:p.Arg119Gln
ENST00000586131.6:c.356G>A	ENSP00000464887.1:p.Arg119Gln
ENST00000586441.1:n.420G>A
ENST00000586737.5:n.356-760G>A
ENST00000586856.1:c.278G>A	ENSP00000466998.1:p.Arg93Gln
ENST00000591309.5:c.361-760G>A	ENSP00000465207.1:n.361-760G>A
ENST00000646507.1:n.525G>A
ENST00000682414.1:c.428G>A	ENSP00000507019.1:p.Arg143Gln
ENST00000682508.1:n.457G>A
ENST00000684218.1:c.428G>A	ENSP00000507804.1:p.Arg143Gln
ENST00000684407.1:c.305G>A	ENSP00000507775.1:p.Arg102Gln
ENST00000684458.1:c.428G>A	ENSP00000508260.1:p.Arg143Gln
XM_011526611.1:c.350G>A	XP_011524913.1:p.Arg117Gln
XM_011526611.2:c.350G>A	XP_011524913.1:p.Arg117Gln
XM_017026467.1:c.305G>A	XP_016881956.1:p.Arg102Gln
XR_001753633.2:n.475G>A
XR_001753634.2:n.475G>A
XR_935763.1:n.475G>A