Canonical Allele Identifier: CA308959192

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45357497G>A , CM000681.2:g.45357497G>A	GRCh38
NC_000019.9:g.45860755G>A , CM000681.1:g.45860755G>A	GRCh37
NC_000019.8:g.50552595G>A	NCBI36
NG_007067.2:g.18091C>T , LRG_461:g.18091C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000400.4:c.1354C>T MANE Select	NP_000391.1:p.Gln452Ter
ENST00000391945.10:c.1354C>T MANE Select	ENSP00000375809.4:p.Gln452Ter
NM_000400.3:c.1354C>T , LRG_461t1:c.1354C>T	NP_000391.1:p.Gln452Ter
ENST00000391941.6:c.1282C>T	ENSP00000375805.2:p.Gln428Ter
ENST00000391942.6:n.525C>T
ENST00000391944.7:c.1120C>T	ENSP00000375808.3:p.Gln374Ter
ENST00000391944.8:c.1354C>T	ENSP00000375808.4:p.Gln452Ter
ENST00000391945.8:c.1354C>T	ENSP00000375809.3:p.Gln452Ter
ENST00000587376.5:c.477C>T
ENST00000587376.6:c.477C>T
ENST00000588652.5:n.1442C>T
ENST00000646507.1:n.1451C>T
ENST00000682414.1:c.1354C>T	ENSP00000507019.1:p.Gln452Ter
ENST00000682508.1:n.1383C>T
ENST00000684218.1:c.*612C>T	ENSP00000507804.1:n.*612C>T
ENST00000684264.1:n.910C>T
ENST00000684407.1:c.1231C>T	ENSP00000507775.1:p.Gln411Ter
ENST00000684458.1:c.1284C>T	ENSP00000508260.1:p.Ser428=
ENST00000684468.1:n.1130C>T
XM_011526611.1:c.1276C>T	XP_011524913.1:p.Gln426Ter
XM_011526611.2:c.1276C>T	XP_011524913.1:p.Gln426Ter
XM_017026467.1:c.1231C>T	XP_016881956.1:p.Gln411Ter
XR_001753633.2:n.1401C>T
XR_001753634.2:n.1401C>T
XR_935763.1:n.1401C>T