Canonical Allele Identifier: CA2338391654

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45357212G= , CM000681.2:g.45357212G=	GRCh38
NC_000019.9:g.45860470G= , CM000681.1:g.45860470G=	GRCh37
NC_000019.8:g.50552310G=	NCBI36
NG_007067.2:g.18376C= , LRG_461:g.18376C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.1479+58C=	ENSP00000375808.4:n.1479+58C=
ENST00000682414.1:c.1479+58C=	ENSP00000507019.1:n.1479+58C=
ENST00000682508.1:n.1508+58C=
ENST00000684218.1:c.*737+58C=	ENSP00000507804.1:n.*737+58C=
ENST00000684264.1:n.1035+58C=
ENST00000684407.1:c.1356+58C=	ENSP00000507775.1:n.1356+58C=
ENST00000684458.1:c.*29+58C=	ENSP00000508260.1:n.*29+58C=
ENST00000684468.1:n.1255+58C=
ENST00000391945.10:c.1479+58C= MANE Select	ENSP00000375809.4:n.1479+58C=
ENST00000587376.6:c.602+58C=
ENST00000646507.1:n.1576+58C=
ENST00000391941.6:c.1407+58C=	ENSP00000375805.2:n.1407+58C=
ENST00000391942.6:n.650+58C=
ENST00000391944.7:c.1245+58C=	ENSP00000375808.3:n.1245+58C=
ENST00000391945.8:c.1479+58C=	ENSP00000375809.3:n.1479+58C=
ENST00000587376.5:c.602+58C=
ENST00000588652.5:n.1567+58C=
NM_000400.3:c.1479+58C= , LRG_461t1:c.1479+58C=	NP_000391.1:n.1479+58C=
XM_011526611.1:c.1401+58C=	XP_011524913.1:n.1401+58C=
XR_935763.1:n.1526+58C=
XM_011526611.2:c.1401+58C=	XP_011524913.1:n.1401+58C=
XM_017026467.1:c.1356+58C=	XP_016881956.1:n.1356+58C=
XR_001753633.2:n.1526+58C=
XR_001753634.2:n.1526+58C=
NM_000400.4:c.1479+58C= MANE Select	NP_000391.1:n.1479+58C=