Canonical Allele Identifier: CA2338396265

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45365051T= , CM000681.2:g.45365051T=	GRCh38
NC_000019.9:g.45868309T= , CM000681.1:g.45868309T=	GRCh37
NC_000019.8:g.50560149T=	NCBI36
NG_007067.2:g.10537A= , LRG_461:g.10537A=

Transcript Alleles

HGVS	Amino-acid Change
NM_000400.4:c.468A= MANE Select	NP_000391.1:p.Arg156=
ENST00000391945.10:c.468A= MANE Select	ENSP00000375809.4:p.Arg156=
NM_000400.3:c.468A= , LRG_461t1:c.468A=	NP_000391.1:p.Arg156=
NM_001130867.1:c.396A=	NP_001124339.1:p.Arg132=
NM_001130867.2:c.396A=	NP_001124339.1:p.Arg132=
ENST00000391941.6:c.396A=	ENSP00000375805.2:p.Arg132=
ENST00000391944.7:c.361-504A=	ENSP00000375808.3:n.361-504A=
ENST00000391944.8:c.468A=	ENSP00000375808.4:p.Arg156=
ENST00000391945.8:c.468A=	ENSP00000375809.3:p.Arg156=
ENST00000485403.6:c.396A=	ENSP00000431229.2:p.Arg132=
ENST00000586131.5:c.396A=	ENSP00000464887.1:p.Arg132=
ENST00000586131.6:c.396A=	ENSP00000464887.1:p.Arg132=
ENST00000586441.1:n.460A=
ENST00000586737.5:n.356-720A=
ENST00000586856.1:c.318A=	ENSP00000466998.1:p.Arg106=
ENST00000591309.5:c.361-720A=	ENSP00000465207.1:n.361-720A=
ENST00000646507.1:n.565A=
ENST00000682414.1:c.468A=	ENSP00000507019.1:p.Arg156=
ENST00000682508.1:n.497A=
ENST00000684218.1:c.468A=	ENSP00000507804.1:p.Arg156=
ENST00000684407.1:c.345A=	ENSP00000507775.1:p.Arg115=
ENST00000684458.1:c.468A=	ENSP00000508260.1:p.Arg156=
XM_011526611.1:c.390A=	XP_011524913.1:p.Arg130=
XM_011526611.2:c.390A=	XP_011524913.1:p.Arg130=
XM_017026467.1:c.345A=	XP_016881956.1:p.Arg115=
XR_001753633.2:n.515A=
XR_001753634.2:n.515A=
XR_935763.1:n.515A=