Canonical Allele Identifier: CA2338389031

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352773G= , CM000681.2:g.45352773G=	GRCh38
NC_000019.9:g.45856031G= , CM000681.1:g.45856031G=	GRCh37
NC_000019.8:g.50547871G=	NCBI36
NG_007067.2:g.22815C= , LRG_461:g.22815C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1875C=	ENSP00000375808.4:p.Tyr625=
ENST00000682414.1:c.1875C=	ENSP00000507019.1:p.Tyr625=
ENST00000682508.1:n.1904C=
ENST00000684218.1:c.*1133C=	ENSP00000507804.1:n.*1133C=
ENST00000684264.1:n.1431C=
ENST00000684407.1:c.1752C=	ENSP00000507775.1:p.Tyr584=
ENST00000684458.1:c.*361C=	ENSP00000508260.1:n.*361C=
ENST00000684468.1:n.1587C=
ENST00000391945.10:c.1875C= MANE Select	ENSP00000375809.4:p.Tyr625=
ENST00000646507.1:n.1972C=
ENST00000391941.6:c.1803C=	ENSP00000375805.2:p.Tyr601=
ENST00000391942.6:n.1046C=
ENST00000391944.7:c.1641C=	ENSP00000375808.3:p.Tyr547=
ENST00000391945.8:c.1875C=	ENSP00000375809.3:p.Tyr625=
ENST00000588652.5:n.1963C=
NM_000400.3:c.1875C= , LRG_461t1:c.1875C=	NP_000391.1:p.Tyr625=
XM_011526611.1:c.1797C=	XP_011524913.1:p.Tyr599=
XM_011526611.2:c.1797C=	XP_011524913.1:p.Tyr599=
XM_017026467.1:c.1752C=	XP_016881956.1:p.Tyr584=
XR_001753633.2:n.1922C=
XR_001753634.2:n.1858C=
NM_000400.4:c.1875C= MANE Select	NP_000391.1:p.Tyr625=