Canonical Allele Identifier: CA2338389613
Gene: ERCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45353615_45353617delinsCTG , CM000681.2:g.45353615_45353617delinsCTG GRCh38
NC_000019.9:g.45856873_45856875delinsCTG , CM000681.1:g.45856873_45856875delinsCTG GRCh37
NC_000019.8:g.50548713_50548715delinsCTG NCBI36
NG_007067.2:g.21971_21973delinsCAG , LRG_461:g.21971_21973delinsCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000391944.8:c.1666-283_1666-281delinsCAG ENSP00000375808.4:n.1666-283_1666-281delinsCAG
ENST00000682414.1:c.1666-283_1666-281delinsCAG ENSP00000507019.1:n.1666-283_1666-281delinsCAG
ENST00000682508.1:n.1695-283_1695-281delinsCAG
ENST00000684218.1:c.*924-283_*924-281delinsCAG ENSP00000507804.1:n.*924-283_*924-281delinsCAG
ENST00000684264.1:n.1222-283_1222-281delinsCAG
ENST00000684407.1:c.1543-283_1543-281delinsCAG ENSP00000507775.1:n.1543-283_1543-281delinsCAG
ENST00000684458.1:c.*152-283_*152-281delinsCAG ENSP00000508260.1:n.*152-283_*152-281delinsCAG
ENST00000684468.1:n.1378-283_1378-281delinsCAG
ENST00000391945.10:c.1666-283_1666-281delinsCAG MANE Select ENSP00000375809.4:n.1666-283_1666-281delinsCAG
ENST00000587376.6:c.725-283_725-281delinsCAG
ENST00000646507.1:n.1763-283_1763-281delinsCAG
ENST00000391941.6:c.1594-283_1594-281delinsCAG ENSP00000375805.2:n.1594-283_1594-281delinsCAG
ENST00000391942.6:n.837-283_837-281delinsCAG
ENST00000391944.7:c.1432-283_1432-281delinsCAG ENSP00000375808.3:n.1432-283_1432-281delinsCAG
ENST00000391945.8:c.1666-283_1666-281delinsCAG ENSP00000375809.3:n.1666-283_1666-281delinsCAG
ENST00000587376.5:c.725-283_725-281delinsCAG
ENST00000588652.5:n.1754-283_1754-281delinsCAG
NM_000400.3:c.1666-283_1666-281delinsCAG , LRG_461t1:c.1666-283_1666-281delinsCAG NP_000391.1:n.1666-283_1666-281delinsCAG
XM_011526611.1:c.1588-283_1588-281delinsCAG XP_011524913.1:n.1588-283_1588-281delinsCAG
XR_935763.1:n.1649-283_1649-281delinsCAG
XM_011526611.2:c.1588-283_1588-281delinsCAG XP_011524913.1:n.1588-283_1588-281delinsCAG
XM_017026467.1:c.1543-283_1543-281delinsCAG XP_016881956.1:n.1543-283_1543-281delinsCAG
XR_001753633.2:n.1713-283_1713-281delinsCAG
XR_001753634.2:n.1649-283_1649-281delinsCAG
NM_000400.4:c.1666-283_1666-281delinsCAG MANE Select NP_000391.1:n.1666-283_1666-281delinsCAG