Canonical Allele Identifier: CA406372463

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45363809T>C , CM000681.2:g.45363809T>C	GRCh38
NC_000019.9:g.45867067T>C , CM000681.1:g.45867067T>C	GRCh37
NC_000019.8:g.50558907T>C	NCBI36
NG_007067.2:g.11779A>G , LRG_461:g.11779A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000400.4:c.1052A>G MANE Select	NP_000391.1:p.Gln351Arg
ENST00000391945.10:c.1052A>G MANE Select	ENSP00000375809.4:p.Gln351Arg
NM_000400.3:c.1052A>G , LRG_461t1:c.1052A>G	NP_000391.1:p.Gln351Arg
NM_001130867.1:c.980A>G	NP_001124339.1:p.Gln327Arg
NM_001130867.2:c.980A>G	NP_001124339.1:p.Gln327Arg
ENST00000391941.6:c.980A>G	ENSP00000375805.2:p.Gln327Arg
ENST00000391944.7:c.818A>G	ENSP00000375808.3:p.Gln273Arg
ENST00000391944.8:c.1052A>G	ENSP00000375808.4:p.Gln351Arg
ENST00000391945.8:c.1052A>G	ENSP00000375809.3:p.Gln351Arg
ENST00000485403.6:c.980A>G	ENSP00000431229.2:p.Gln327Arg
ENST00000587376.5:c.175A>G
ENST00000587376.6:c.175A>G
ENST00000646507.1:n.1149A>G
ENST00000682414.1:c.1052A>G	ENSP00000507019.1:p.Gln351Arg
ENST00000682508.1:n.1081A>G
ENST00000684218.1:c.*310A>G	ENSP00000507804.1:n.*310A>G
ENST00000684407.1:c.929A>G	ENSP00000507775.1:p.Gln310Arg
ENST00000684458.1:c.1052A>G	ENSP00000508260.1:p.Gln351Arg
XM_011526611.1:c.974A>G	XP_011524913.1:p.Gln325Arg
XM_011526611.2:c.974A>G	XP_011524913.1:p.Gln325Arg
XM_017026467.1:c.929A>G	XP_016881956.1:p.Gln310Arg
XR_001753633.2:n.1099A>G
XR_001753634.2:n.1099A>G
XR_935763.1:n.1099A>G