Canonical Allele Identifier: CA2338389534
Gene: ERCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45353501_45353503delinsCAG , CM000681.2:g.45353501_45353503delinsCAG GRCh38
NC_000019.9:g.45856759_45856761delinsCAG , CM000681.1:g.45856759_45856761delinsCAG GRCh37
NC_000019.8:g.50548599_50548601delinsCAG NCBI36
NG_007067.2:g.22085_22087delinsCTG , LRG_461:g.22085_22087delinsCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000391944.8:c.1666-169_1666-167delinsCTG ENSP00000375808.4:n.1666-169_1666-167delinsCTG
ENST00000682414.1:c.1666-169_1666-167delinsCTG ENSP00000507019.1:n.1666-169_1666-167delinsCTG
ENST00000682508.1:n.1695-169_1695-167delinsCTG
ENST00000684218.1:c.*924-169_*924-167delinsCTG ENSP00000507804.1:n.*924-169_*924-167delinsCTG
ENST00000684264.1:n.1222-169_1222-167delinsCTG
ENST00000684407.1:c.1543-169_1543-167delinsCTG ENSP00000507775.1:n.1543-169_1543-167delinsCTG
ENST00000684458.1:c.*152-169_*152-167delinsCTG ENSP00000508260.1:n.*152-169_*152-167delinsCTG
ENST00000684468.1:n.1378-169_1378-167delinsCTG
ENST00000391945.10:c.1666-169_1666-167delinsCTG MANE Select ENSP00000375809.4:n.1666-169_1666-167delinsCTG
ENST00000587376.6:c.725-169_725-167delinsCTG
ENST00000646507.1:n.1763-169_1763-167delinsCTG
ENST00000391941.6:c.1594-169_1594-167delinsCTG ENSP00000375805.2:n.1594-169_1594-167delinsCTG
ENST00000391942.6:n.837-169_837-167delinsCTG
ENST00000391944.7:c.1432-169_1432-167delinsCTG ENSP00000375808.3:n.1432-169_1432-167delinsCTG
ENST00000391945.8:c.1666-169_1666-167delinsCTG ENSP00000375809.3:n.1666-169_1666-167delinsCTG
ENST00000587376.5:c.725-169_725-167delinsCTG
ENST00000588652.5:n.1754-169_1754-167delinsCTG
NM_000400.3:c.1666-169_1666-167delinsCTG , LRG_461t1:c.1666-169_1666-167delinsCTG NP_000391.1:n.1666-169_1666-167delinsCTG
XM_011526611.1:c.1588-169_1588-167delinsCTG XP_011524913.1:n.1588-169_1588-167delinsCTG
XR_935763.1:n.1649-169_1649-167delinsCTG
XM_011526611.2:c.1588-169_1588-167delinsCTG XP_011524913.1:n.1588-169_1588-167delinsCTG
XM_017026467.1:c.1543-169_1543-167delinsCTG XP_016881956.1:n.1543-169_1543-167delinsCTG
XR_001753633.2:n.1713-169_1713-167delinsCTG
XR_001753634.2:n.1649-169_1649-167delinsCTG
NM_000400.4:c.1666-169_1666-167delinsCTG MANE Select NP_000391.1:n.1666-169_1666-167delinsCTG