Canonical Allele Identifier: CA2338389371

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353247G= , CM000681.2:g.45353247G=	GRCh38
NC_000019.9:g.45856505G= , CM000681.1:g.45856505G=	GRCh37
NC_000019.8:g.50548345G=	NCBI36
NG_007067.2:g.22341C= , LRG_461:g.22341C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1753C=	ENSP00000375808.4:p.Gln585=
ENST00000682414.1:c.1753C=	ENSP00000507019.1:p.Gln585=
ENST00000682508.1:n.1782C=
ENST00000684218.1:c.*1011C=	ENSP00000507804.1:n.*1011C=
ENST00000684264.1:n.1309C=
ENST00000684407.1:c.1630C=	ENSP00000507775.1:p.Gln544=
ENST00000684458.1:c.*239C=	ENSP00000508260.1:n.*239C=
ENST00000684468.1:n.1465C=
ENST00000391945.10:c.1753C= MANE Select	ENSP00000375809.4:p.Gln585=
ENST00000587376.6:c.812C=
ENST00000646507.1:n.1850C=
ENST00000391941.6:c.1681C=	ENSP00000375805.2:p.Gln561=
ENST00000391942.6:n.924C=
ENST00000391944.7:c.1519C=	ENSP00000375808.3:p.Gln507=
ENST00000391945.8:c.1753C=	ENSP00000375809.3:p.Gln585=
ENST00000587376.5:c.812C=
ENST00000588652.5:n.1841C=
NM_000400.3:c.1753C= , LRG_461t1:c.1753C=	NP_000391.1:p.Gln585=
XM_011526611.1:c.1675C=	XP_011524913.1:p.Gln559=
XR_935763.1:n.1736C=
XM_011526611.2:c.1675C=	XP_011524913.1:p.Gln559=
XM_017026467.1:c.1630C=	XP_016881956.1:p.Gln544=
XR_001753633.2:n.1800C=
XR_001753634.2:n.1736C=
NM_000400.4:c.1753C= MANE Select	NP_000391.1:p.Gln585=