Canonical Allele Identifier: CA406362356

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352311C>T , CM000681.2:g.45352311C>T	GRCh38
NC_000019.9:g.45855569C>T , CM000681.1:g.45855569C>T	GRCh37
NC_000019.8:g.50547409C>T	NCBI36
NG_007067.2:g.23277G>A , LRG_461:g.23277G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000400.4:c.2088G>A MANE Select	NP_000391.1:p.Trp696Ter
ENST00000391945.10:c.2088G>A MANE Select	ENSP00000375809.4:p.Trp696Ter
NM_000400.3:c.2088G>A , LRG_461t1:c.2088G>A	NP_000391.1:p.Trp696Ter
ENST00000391941.6:c.2016G>A	ENSP00000375805.2:p.Trp672Ter
ENST00000391942.6:n.1259G>A
ENST00000391944.7:c.1854G>A	ENSP00000375808.3:p.Trp618Ter
ENST00000391944.8:c.2088G>A	ENSP00000375808.4:p.Trp696Ter
ENST00000391945.8:c.2088G>A	ENSP00000375809.3:p.Trp696Ter
ENST00000588652.5:n.2176G>A
ENST00000646507.1:n.2185G>A
ENST00000682414.1:c.2088G>A	ENSP00000507019.1:p.Trp696Ter
ENST00000682508.1:n.2117G>A
ENST00000684218.1:c.*1346G>A	ENSP00000507804.1:n.*1346G>A
ENST00000684264.1:n.1644G>A
ENST00000684407.1:c.1965G>A	ENSP00000507775.1:p.Trp655Ter
ENST00000684458.1:c.*574G>A	ENSP00000508260.1:n.*574G>A
ENST00000684468.1:n.1800G>A
XM_011526611.1:c.2010G>A	XP_011524913.1:p.Trp670Ter
XM_011526611.2:c.2010G>A	XP_011524913.1:p.Trp670Ter
XM_017026467.1:c.1965G>A	XP_016881956.1:p.Trp655Ter
XR_001753633.2:n.2135G>A
XR_001753634.2:n.2071G>A