Canonical Allele Identifier: CA2585786177

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45357301-ATGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45357304_45357306del , CM000681.2:g.45357304_45357306del	GRCh38
NC_000019.9:g.45860562_45860564del , CM000681.1:g.45860562_45860564del	GRCh37
NC_000019.8:g.50552402_50552404del	NCBI36
NG_007067.2:g.18284_18286del , LRG_461:g.18284_18286del

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.1445_1447del	ENSP00000375808.4:p.Thr482del
ENST00000682414.1:c.1445_1447del	ENSP00000507019.1:p.Thr482del
ENST00000682508.1:n.1474_1476del
ENST00000684218.1:c.*703_*705del	ENSP00000507804.1:n.*703_*705del
ENST00000684264.1:n.1001_1003del
ENST00000684407.1:c.1322_1324del	ENSP00000507775.1:p.Thr441del
ENST00000684458.1:c.1375_1377del	ENSP00000508260.1:p.Pro459del
ENST00000684468.1:n.1221_1223del
ENST00000391945.10:c.1445_1447del MANE Select	ENSP00000375809.4:p.Thr482del
ENST00000587376.6:c.568_570del
ENST00000646507.1:n.1542_1544del
ENST00000391941.6:c.1373_1375del	ENSP00000375805.2:p.Thr458del
ENST00000391942.6:n.616_618del
ENST00000391944.7:c.1211_1213del	ENSP00000375808.3:p.Thr404del
ENST00000391945.8:c.1445_1447del	ENSP00000375809.3:p.Thr482del
ENST00000587376.5:c.568_570del
ENST00000588652.5:n.1533_1535del
NM_000400.3:c.1445_1447del , LRG_461t1:c.1445_1447del	NP_000391.1:p.Thr482del
XM_011526611.1:c.1367_1369del	XP_011524913.1:p.Thr456del
XR_935763.1:n.1492_1494del
XM_011526611.2:c.1367_1369del	XP_011524913.1:p.Thr456del
XM_017026467.1:c.1322_1324del	XP_016881956.1:p.Thr441del
XR_001753633.2:n.1492_1494del
XR_001753634.2:n.1492_1494del
NM_000400.4:c.1445_1447del MANE Select	NP_000391.1:p.Thr482del