Canonical Allele Identifier: CA2338388893

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352558C= , CM000681.2:g.45352558C=	GRCh38
NC_000019.9:g.45855816C= , CM000681.1:g.45855816C=	GRCh37
NC_000019.8:g.50547656C=	NCBI36
NG_007067.2:g.23030G= , LRG_461:g.23030G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1994G=	ENSP00000375808.4:p.Gly665=
ENST00000682414.1:c.1994G=	ENSP00000507019.1:p.Gly665=
ENST00000682508.1:n.2023G=
ENST00000684218.1:c.*1252G=	ENSP00000507804.1:n.*1252G=
ENST00000684264.1:n.1550G=
ENST00000684407.1:c.1871G=	ENSP00000507775.1:p.Gly624=
ENST00000684458.1:c.*480G=	ENSP00000508260.1:n.*480G=
ENST00000684468.1:n.1706G=
ENST00000391945.10:c.1994G= MANE Select	ENSP00000375809.4:p.Gly665=
ENST00000646507.1:n.2091G=
ENST00000391941.6:c.1922G=	ENSP00000375805.2:p.Gly641=
ENST00000391942.6:n.1165G=
ENST00000391944.7:c.1760G=	ENSP00000375808.3:p.Gly587=
ENST00000391945.8:c.1994G=	ENSP00000375809.3:p.Gly665=
ENST00000588652.5:n.2082G=
NM_000400.3:c.1994G= , LRG_461t1:c.1994G=	NP_000391.1:p.Gly665=
XM_011526611.1:c.1916G=	XP_011524913.1:p.Gly639=
XM_011526611.2:c.1916G=	XP_011524913.1:p.Gly639=
XM_017026467.1:c.1871G=	XP_016881956.1:p.Gly624=
XR_001753633.2:n.2041G=
XR_001753634.2:n.1977G=
NM_000400.4:c.1994G= MANE Select	NP_000391.1:p.Gly665=