Canonical Allele Identifier: CA2338395753

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364098_45364099delinsCT , CM000681.2:g.45364098_45364099delinsCT	GRCh38
NC_000019.9:g.45867356_45867357delinsCT , CM000681.1:g.45867356_45867357delinsCT	GRCh37
NC_000019.8:g.50559196_50559197delinsCT	NCBI36
NG_007067.2:g.11489_11490delinsAG , LRG_461:g.11489_11490delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.836_837delinsAG	ENSP00000375808.4:p.Gln279=
ENST00000682414.1:c.836_837delinsAG	ENSP00000507019.1:p.Gln279=
ENST00000682508.1:n.865_866delinsAG
ENST00000684218.1:c.*94_*95delinsAG	ENSP00000507804.1:n.*94_*95delinsAG
ENST00000684407.1:c.713_714delinsAG	ENSP00000507775.1:p.Gln238=
ENST00000684458.1:c.836_837delinsAG	ENSP00000508260.1:p.Gln279=
ENST00000391945.10:c.836_837delinsAG MANE Select	ENSP00000375809.4:p.Gln279=
ENST00000586131.6:c.764_765delinsAG	ENSP00000464887.1:p.Gln255=
ENST00000646507.1:n.933_934delinsAG
ENST00000391941.6:c.764_765delinsAG	ENSP00000375805.2:p.Gln255=
ENST00000391944.7:c.602_603delinsAG	ENSP00000375808.3:p.Gln201=
ENST00000391945.8:c.836_837delinsAG	ENSP00000375809.3:p.Gln279=
ENST00000485403.6:c.764_765delinsAG	ENSP00000431229.2:p.Gln255=
ENST00000586131.5:c.764_765delinsAG	ENSP00000464887.1:p.Gln255=
ENST00000586737.5:n.473_474delinsAG
ENST00000591309.5:c.*94_*95delinsAG	ENSP00000465207.1:n.*94_*95delinsAG
NM_000400.3:c.836_837delinsAG , LRG_461t1:c.836_837delinsAG	NP_000391.1:p.Gln279=
NM_001130867.1:c.764_765delinsAG	NP_001124339.1:p.Gln255=
XM_011526611.1:c.758_759delinsAG	XP_011524913.1:p.Gln253=
XR_935763.1:n.883_884delinsAG
XM_011526611.2:c.758_759delinsAG	XP_011524913.1:p.Gln253=
XM_017026467.1:c.713_714delinsAG	XP_016881956.1:p.Gln238=
XR_001753633.2:n.883_884delinsAG
XR_001753634.2:n.883_884delinsAG
NM_000400.4:c.836_837delinsAG MANE Select	NP_000391.1:p.Gln279=
NM_001130867.2:c.764_765delinsAG	NP_001124339.1:p.Gln255=