Canonical Allele Identifier: CA2338388718

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352274T= , CM000681.2:g.45352274T=	GRCh38
NC_000019.9:g.45855532T= , CM000681.1:g.45855532T=	GRCh37
NC_000019.8:g.50547372T=	NCBI36
NG_007067.2:g.23314A= , LRG_461:g.23314A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2125A=	ENSP00000375808.4:p.Thr709=
ENST00000682414.1:c.2125A=	ENSP00000507019.1:p.Thr709=
ENST00000682508.1:n.2154A=
ENST00000684218.1:c.*1383A=	ENSP00000507804.1:n.*1383A=
ENST00000684264.1:n.1681A=
ENST00000684407.1:c.2002A=	ENSP00000507775.1:p.Thr668=
ENST00000684458.1:c.*611A=	ENSP00000508260.1:n.*611A=
ENST00000684468.1:n.1837A=
ENST00000391945.10:c.2125A= MANE Select	ENSP00000375809.4:p.Thr709=
ENST00000646507.1:n.2222A=
ENST00000391941.6:c.2053A=	ENSP00000375805.2:p.Thr685=
ENST00000391942.6:n.1296A=
ENST00000391944.7:c.1891A=	ENSP00000375808.3:p.Thr631=
ENST00000391945.8:c.2125A=	ENSP00000375809.3:p.Thr709=
ENST00000588652.5:n.2213A=
NM_000400.3:c.2125A= , LRG_461t1:c.2125A=	NP_000391.1:p.Thr709=
XM_011526611.1:c.2047A=	XP_011524913.1:p.Thr683=
XM_011526611.2:c.2047A=	XP_011524913.1:p.Thr683=
XM_017026467.1:c.2002A=	XP_016881956.1:p.Thr668=
XR_001753633.2:n.2172A=
XR_001753634.2:n.2108A=
NM_000400.4:c.2125A= MANE Select	NP_000391.1:p.Thr709=