Canonical Allele Identifier: CA996296083
Gene: ERCC2 HGNC NCBI

Linked Data

dbSNP Id: rs1971901891

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45353497_45353498del , CM000681.2:g.45353497_45353498del GRCh38
NC_000019.9:g.45856755_45856756del , CM000681.1:g.45856755_45856756del GRCh37
NC_000019.8:g.50548595_50548596del NCBI36
NG_007067.2:g.22090_22091del , LRG_461:g.22090_22091del

Transcript Alleles

HGVS Amino-acid Change
ENST00000391944.8:c.1666-164_1666-163del ENSP00000375808.4:n.1666-164_1666-163del
ENST00000682414.1:c.1666-164_1666-163del ENSP00000507019.1:n.1666-164_1666-163del
ENST00000682508.1:n.1695-164_1695-163del
ENST00000684218.1:c.*924-164_*924-163del ENSP00000507804.1:n.*924-164_*924-163del
ENST00000684264.1:n.1222-164_1222-163del
ENST00000684407.1:c.1543-164_1543-163del ENSP00000507775.1:n.1543-164_1543-163del
ENST00000684458.1:c.*152-164_*152-163del ENSP00000508260.1:n.*152-164_*152-163del
ENST00000684468.1:n.1378-164_1378-163del
ENST00000391945.10:c.1666-164_1666-163del MANE Select ENSP00000375809.4:n.1666-164_1666-163del
ENST00000587376.6:c.725-164_725-163del
ENST00000646507.1:n.1763-164_1763-163del
ENST00000391941.6:c.1594-164_1594-163del ENSP00000375805.2:n.1594-164_1594-163del
ENST00000391942.6:n.837-164_837-163del
ENST00000391944.7:c.1432-164_1432-163del ENSP00000375808.3:n.1432-164_1432-163del
ENST00000391945.8:c.1666-164_1666-163del ENSP00000375809.3:n.1666-164_1666-163del
ENST00000587376.5:c.725-164_725-163del
ENST00000588652.5:n.1754-164_1754-163del
NM_000400.3:c.1666-164_1666-163del , LRG_461t1:c.1666-164_1666-163del NP_000391.1:n.1666-164_1666-163del
XM_011526611.1:c.1588-164_1588-163del XP_011524913.1:n.1588-164_1588-163del
XR_935763.1:n.1649-164_1649-163del
XM_011526611.2:c.1588-164_1588-163del XP_011524913.1:n.1588-164_1588-163del
XM_017026467.1:c.1543-164_1543-163del XP_016881956.1:n.1543-164_1543-163del
XR_001753633.2:n.1713-164_1713-163del
XR_001753634.2:n.1649-164_1649-163del
NM_000400.4:c.1666-164_1666-163del MANE Select NP_000391.1:n.1666-164_1666-163del