Canonical Allele Identifier: CA2338388892

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352556G= , CM000681.2:g.45352556G=	GRCh38
NC_000019.9:g.45855814G= , CM000681.1:g.45855814G=	GRCh37
NC_000019.8:g.50547654G=	NCBI36
NG_007067.2:g.23032C= , LRG_461:g.23032C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1996C=	ENSP00000375808.4:p.Arg666=
ENST00000682414.1:c.1996C=	ENSP00000507019.1:p.Arg666=
ENST00000682508.1:n.2025C=
ENST00000684218.1:c.*1254C=	ENSP00000507804.1:n.*1254C=
ENST00000684264.1:n.1552C=
ENST00000684407.1:c.1873C=	ENSP00000507775.1:p.Arg625=
ENST00000684458.1:c.*482C=	ENSP00000508260.1:n.*482C=
ENST00000684468.1:n.1708C=
ENST00000391945.10:c.1996C= MANE Select	ENSP00000375809.4:p.Arg666=
ENST00000646507.1:n.2093C=
ENST00000391941.6:c.1924C=	ENSP00000375805.2:p.Arg642=
ENST00000391942.6:n.1167C=
ENST00000391944.7:c.1762C=	ENSP00000375808.3:p.Arg588=
ENST00000391945.8:c.1996C=	ENSP00000375809.3:p.Arg666=
ENST00000588652.5:n.2084C=
NM_000400.3:c.1996C= , LRG_461t1:c.1996C=	NP_000391.1:p.Arg666=
XM_011526611.1:c.1918C=	XP_011524913.1:p.Arg640=
XM_011526611.2:c.1918C=	XP_011524913.1:p.Arg640=
XM_017026467.1:c.1873C=	XP_016881956.1:p.Arg625=
XR_001753633.2:n.2043C=
XR_001753634.2:n.1979C=
NM_000400.4:c.1996C= MANE Select	NP_000391.1:p.Arg666=