Canonical Allele Identifier: CA2338388204

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45351661T= , CM000681.2:g.45351661T=	GRCh38
NC_000019.9:g.45854919T= , CM000681.1:g.45854919T=	GRCh37
NC_000019.8:g.50546759T=	NCBI36
NG_007067.2:g.23927A= , LRG_461:g.23927A=

Transcript Alleles

HGVS	Amino-acid Change
NM_000400.4:c.2251A= MANE Select	NP_000391.1:p.Lys751=
ENST00000391945.10:c.2251A= MANE Select	ENSP00000375809.4:p.Lys751=
NM_000400.3:c.2251A= , LRG_461t1:c.2251A=	NP_000391.1:p.Lys751=
ENST00000391942.6:n.1422A=
ENST00000391944.7:c.2017A=	ENSP00000375808.3:p.Lys673=
ENST00000391944.8:c.*248A=	ENSP00000375808.4:n.*248A=
ENST00000391945.8:c.2251A=	ENSP00000375809.3:p.Lys751=
ENST00000588652.5:n.2339A=
ENST00000646507.1:n.2348A=
ENST00000682414.1:c.2251A=	ENSP00000507019.1:p.Lys751=
ENST00000682508.1:n.2280A=
ENST00000684218.1:c.*1509A=	ENSP00000507804.1:n.*1509A=
ENST00000684264.1:n.1807A=
ENST00000684407.1:c.2128A=	ENSP00000507775.1:p.Lys710=
ENST00000684458.1:c.*737A=	ENSP00000508260.1:n.*737A=
ENST00000684468.1:n.1963A=
XM_011526611.1:c.2173A=	XP_011524913.1:p.Lys725=
XM_011526611.2:c.2173A=	XP_011524913.1:p.Lys725=
XM_017026467.1:c.2128A=	XP_016881956.1:p.Lys710=
XR_001753633.2:n.2298A=