Canonical Allele Identifier: CA2338388708

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352262C= , CM000681.2:g.45352262C=	GRCh38
NC_000019.9:g.45855520C= , CM000681.1:g.45855520C=	GRCh37
NC_000019.8:g.50547360C=	NCBI36
NG_007067.2:g.23326G= , LRG_461:g.23326G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2137G=	ENSP00000375808.4:p.Gly713=
ENST00000682414.1:c.2137G=	ENSP00000507019.1:p.Gly713=
ENST00000682508.1:n.2166G=
ENST00000684218.1:c.*1395G=	ENSP00000507804.1:n.*1395G=
ENST00000684264.1:n.1693G=
ENST00000684407.1:c.2014G=	ENSP00000507775.1:p.Gly672=
ENST00000684458.1:c.*623G=	ENSP00000508260.1:n.*623G=
ENST00000684468.1:n.1849G=
ENST00000391945.10:c.2137G= MANE Select	ENSP00000375809.4:p.Gly713=
ENST00000646507.1:n.2234G=
ENST00000391941.6:c.2065G=	ENSP00000375805.2:p.Gly689=
ENST00000391942.6:n.1308G=
ENST00000391944.7:c.1903G=	ENSP00000375808.3:p.Gly635=
ENST00000391945.8:c.2137G=	ENSP00000375809.3:p.Gly713=
ENST00000588652.5:n.2225G=
NM_000400.3:c.2137G= , LRG_461t1:c.2137G=	NP_000391.1:p.Gly713=
XM_011526611.1:c.2059G=	XP_011524913.1:p.Gly687=
XM_011526611.2:c.2059G=	XP_011524913.1:p.Gly687=
XM_017026467.1:c.2014G=	XP_016881956.1:p.Gly672=
XR_001753633.2:n.2184G=
XR_001753634.2:n.2120G=
NM_000400.4:c.2137G= MANE Select	NP_000391.1:p.Gly713=