Canonical Allele Identifier: CA9513494

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45361629G>A , CM000681.2:g.45361629G>A	GRCh38
NC_000019.9:g.45864887G>A , CM000681.1:g.45864887G>A	GRCh37
NC_000019.8:g.50556727G>A	NCBI36
NG_007067.2:g.13959C>T , LRG_461:g.13959C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000400.4:c.1132C>T MANE Select	NP_000391.1:p.Arg378Cys
ENST00000391945.10:c.1132C>T MANE Select	ENSP00000375809.4:p.Arg378Cys
NM_000400.3:c.1132C>T , LRG_461t1:c.1132C>T	NP_000391.1:p.Arg378Cys
NM_001130867.1:c.1060C>T	NP_001124339.1:p.Arg354Cys
NM_001130867.2:c.1060C>T	NP_001124339.1:p.Arg354Cys
ENST00000391941.6:c.1060C>T	ENSP00000375805.2:p.Arg354Cys
ENST00000391942.6:n.303C>T
ENST00000391944.7:c.898C>T	ENSP00000375808.3:p.Arg300Cys
ENST00000391944.8:c.1132C>T	ENSP00000375808.4:p.Arg378Cys
ENST00000391945.8:c.1132C>T	ENSP00000375809.3:p.Arg378Cys
ENST00000485403.6:c.1060C>T	ENSP00000431229.2:p.Arg354Cys
ENST00000587376.5:c.255C>T
ENST00000587376.6:c.255C>T
ENST00000646507.1:n.1229C>T
ENST00000682414.1:c.1132C>T	ENSP00000507019.1:p.Arg378Cys
ENST00000682508.1:n.1161C>T
ENST00000684218.1:c.*390C>T	ENSP00000507804.1:n.*390C>T
ENST00000684407.1:c.1009C>T	ENSP00000507775.1:p.Arg337Cys
ENST00000684458.1:c.1132C>T	ENSP00000508260.1:p.Arg378Cys
XM_011526611.1:c.1054C>T	XP_011524913.1:p.Arg352Cys
XM_011526611.2:c.1054C>T	XP_011524913.1:p.Arg352Cys
XM_017026467.1:c.1009C>T	XP_016881956.1:p.Arg337Cys
XR_001753633.2:n.1179C>T
XR_001753634.2:n.1179C>T
XR_935763.1:n.1179C>T