Canonical Allele Identifier: CA2338388692

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352245C= , CM000681.2:g.45352245C=	GRCh38
NC_000019.9:g.45855503C= , CM000681.1:g.45855503C=	GRCh37
NC_000019.8:g.50547343C=	NCBI36
NG_007067.2:g.23343G= , LRG_461:g.23343G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2154G=	ENSP00000375808.4:p.Lys718=
ENST00000682414.1:c.2154G=	ENSP00000507019.1:p.Lys718=
ENST00000682508.1:n.2183G=
ENST00000684218.1:c.*1412G=	ENSP00000507804.1:n.*1412G=
ENST00000684264.1:n.1710G=
ENST00000684407.1:c.2031G=	ENSP00000507775.1:p.Lys677=
ENST00000684458.1:c.*640G=	ENSP00000508260.1:n.*640G=
ENST00000684468.1:n.1866G=
ENST00000391945.10:c.2154G= MANE Select	ENSP00000375809.4:p.Lys718=
ENST00000646507.1:n.2251G=
ENST00000391941.6:c.2082G=	ENSP00000375805.2:p.Lys694=
ENST00000391942.6:n.1325G=
ENST00000391944.7:c.1920G=	ENSP00000375808.3:p.Lys640=
ENST00000391945.8:c.2154G=	ENSP00000375809.3:p.Lys718=
ENST00000588652.5:n.2242G=
NM_000400.3:c.2154G= , LRG_461t1:c.2154G=	NP_000391.1:p.Lys718=
XM_011526611.1:c.2076G=	XP_011524913.1:p.Lys692=
XM_011526611.2:c.2076G=	XP_011524913.1:p.Lys692=
XM_017026467.1:c.2031G=	XP_016881956.1:p.Lys677=
XR_001753633.2:n.2201G=
XR_001753634.2:n.2137G=
NM_000400.4:c.2154G= MANE Select	NP_000391.1:p.Lys718=