Canonical Allele Identifier: CA2338391729

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45357329G= , CM000681.2:g.45357329G=	GRCh38
NC_000019.9:g.45860587G= , CM000681.1:g.45860587G=	GRCh37
NC_000019.8:g.50552427G=	NCBI36
NG_007067.2:g.18259C= , LRG_461:g.18259C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1420C=	ENSP00000375808.4:p.His474=
ENST00000682414.1:c.1420C=	ENSP00000507019.1:p.His474=
ENST00000682508.1:n.1449C=
ENST00000684218.1:c.*678C=	ENSP00000507804.1:n.*678C=
ENST00000684264.1:n.976C=
ENST00000684407.1:c.1297C=	ENSP00000507775.1:p.His433=
ENST00000684458.1:c.1350C=	ENSP00000508260.1:p.Ser450=
ENST00000684468.1:n.1196C=
ENST00000391945.10:c.1420C= MANE Select	ENSP00000375809.4:p.His474=
ENST00000587376.6:c.543C=
ENST00000646507.1:n.1517C=
ENST00000391941.6:c.1348C=	ENSP00000375805.2:p.His450=
ENST00000391942.6:n.591C=
ENST00000391944.7:c.1186C=	ENSP00000375808.3:p.His396=
ENST00000391945.8:c.1420C=	ENSP00000375809.3:p.His474=
ENST00000587376.5:c.543C=
ENST00000588652.5:n.1508C=
NM_000400.3:c.1420C= , LRG_461t1:c.1420C=	NP_000391.1:p.His474=
XM_011526611.1:c.1342C=	XP_011524913.1:p.His448=
XR_935763.1:n.1467C=
XM_011526611.2:c.1342C=	XP_011524913.1:p.His448=
XM_017026467.1:c.1297C=	XP_016881956.1:p.His433=
XR_001753633.2:n.1467C=
XR_001753634.2:n.1467C=
NM_000400.4:c.1420C= MANE Select	NP_000391.1:p.His474=