Canonical Allele Identifier: CA2338388699

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352251C= , CM000681.2:g.45352251C=	GRCh38
NC_000019.9:g.45855509C= , CM000681.1:g.45855509C=	GRCh37
NC_000019.8:g.50547349C=	NCBI36
NG_007067.2:g.23337G= , LRG_461:g.23337G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2148G=	ENSP00000375808.4:p.Val716=
ENST00000682414.1:c.2148G=	ENSP00000507019.1:p.Val716=
ENST00000682508.1:n.2177G=
ENST00000684218.1:c.*1406G=	ENSP00000507804.1:n.*1406G=
ENST00000684264.1:n.1704G=
ENST00000684407.1:c.2025G=	ENSP00000507775.1:p.Val675=
ENST00000684458.1:c.*634G=	ENSP00000508260.1:n.*634G=
ENST00000684468.1:n.1860G=
ENST00000391945.10:c.2148G= MANE Select	ENSP00000375809.4:p.Val716=
ENST00000646507.1:n.2245G=
ENST00000391941.6:c.2076G=	ENSP00000375805.2:p.Val692=
ENST00000391942.6:n.1319G=
ENST00000391944.7:c.1914G=	ENSP00000375808.3:p.Val638=
ENST00000391945.8:c.2148G=	ENSP00000375809.3:p.Val716=
ENST00000588652.5:n.2236G=
NM_000400.3:c.2148G= , LRG_461t1:c.2148G=	NP_000391.1:p.Val716=
XM_011526611.1:c.2070G=	XP_011524913.1:p.Val690=
XM_011526611.2:c.2070G=	XP_011524913.1:p.Val690=
XM_017026467.1:c.2025G=	XP_016881956.1:p.Val675=
XR_001753633.2:n.2195G=
XR_001753634.2:n.2131G=
NM_000400.4:c.2148G= MANE Select	NP_000391.1:p.Val716=