Canonical Allele Identifier: CA2338395609

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45363903G= , CM000681.2:g.45363903G=	GRCh38
NC_000019.9:g.45867161G= , CM000681.1:g.45867161G=	GRCh37
NC_000019.8:g.50559001G=	NCBI36
NG_007067.2:g.11685C= , LRG_461:g.11685C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.958C=	ENSP00000375808.4:p.Pro320=
ENST00000682414.1:c.958C=	ENSP00000507019.1:p.Pro320=
ENST00000682508.1:n.987C=
ENST00000684218.1:c.*216C=	ENSP00000507804.1:n.*216C=
ENST00000684407.1:c.835C=	ENSP00000507775.1:p.Pro279=
ENST00000684458.1:c.958C=	ENSP00000508260.1:p.Pro320=
ENST00000391945.10:c.958C= MANE Select	ENSP00000375809.4:p.Pro320=
ENST00000587376.6:c.81C=
ENST00000646507.1:n.1055C=
ENST00000391941.6:c.886C=	ENSP00000375805.2:p.Pro296=
ENST00000391944.7:c.724C=	ENSP00000375808.3:p.Pro242=
ENST00000391945.8:c.958C=	ENSP00000375809.3:p.Pro320=
ENST00000485403.6:c.886C=	ENSP00000431229.2:p.Pro296=
ENST00000587376.5:c.81C=
NM_000400.3:c.958C= , LRG_461t1:c.958C=	NP_000391.1:p.Pro320=
NM_001130867.1:c.886C=	NP_001124339.1:p.Pro296=
XM_011526611.1:c.880C=	XP_011524913.1:p.Pro294=
XR_935763.1:n.1005C=
XM_011526611.2:c.880C=	XP_011524913.1:p.Pro294=
XM_017026467.1:c.835C=	XP_016881956.1:p.Pro279=
XR_001753633.2:n.1005C=
XR_001753634.2:n.1005C=
NM_000400.4:c.958C= MANE Select	NP_000391.1:p.Pro320=
NM_001130867.2:c.886C=	NP_001124339.1:p.Pro296=