Canonical Allele Identifier: CA2338388441

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45351951_45351953delinsGTC , CM000681.2:g.45351951_45351953delinsGTC	GRCh38
NC_000019.9:g.45855209_45855211delinsGTC , CM000681.1:g.45855209_45855211delinsGTC	GRCh37
NC_000019.8:g.50547049_50547051delinsGTC	NCBI36
NG_007067.2:g.23635_23637delinsGAC , LRG_461:g.23635_23637delinsGAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2446_2448delinsGAC	ENSP00000375808.4:p.Asp816=
ENST00000682414.1:c.2191-232_2191-230delinsGAC	ENSP00000507019.1:n.2191-232_2191-230delinsGAC
ENST00000682508.1:n.2220-232_2220-230delinsGAC
ENST00000684218.1:c.*1449-232_*1449-230delinsGAC	ENSP00000507804.1:n.*1449-232_*1449-230delinsGAC
ENST00000684264.1:n.1747-232_1747-230delinsGAC
ENST00000684407.1:c.2068-232_2068-230delinsGAC	ENSP00000507775.1:n.2068-232_2068-230delinsGAC
ENST00000684458.1:c.*677-232_*677-230delinsGAC	ENSP00000508260.1:n.*677-232_*677-230delinsGAC
ENST00000684468.1:n.1903-232_1903-230delinsGAC
ENST00000391945.10:c.2191-232_2191-230delinsGAC MANE Select	ENSP00000375809.4:n.2191-232_2191-230delinsGAC
ENST00000646507.1:n.2288-232_2288-230delinsGAC
ENST00000391942.6:n.1362-232_1362-230delinsGAC
ENST00000391944.7:c.1957-232_1957-230delinsGAC	ENSP00000375808.3:n.1957-232_1957-230delinsGAC
ENST00000391945.8:c.2191-232_2191-230delinsGAC	ENSP00000375809.3:n.2191-232_2191-230delinsGAC
ENST00000588652.5:n.2279-232_2279-230delinsGAC
NM_000400.3:c.2191-232_2191-230delinsGAC , LRG_461t1:c.2191-232_2191-230delinsGAC	NP_000391.1:n.2191-232_2191-230delinsGAC
XM_011526611.1:c.2113-232_2113-230delinsGAC	XP_011524913.1:n.2113-232_2113-230delinsGAC
XM_011526611.2:c.2113-232_2113-230delinsGAC	XP_011524913.1:n.2113-232_2113-230delinsGAC
XM_017026467.1:c.2068-232_2068-230delinsGAC	XP_016881956.1:n.2068-232_2068-230delinsGAC
XR_001753633.2:n.2238-232_2238-230delinsGAC
XR_001753634.2:n.2174-232_2174-230delinsGAC
NM_000400.4:c.2191-232_2191-230delinsGAC MANE Select	NP_000391.1:n.2191-232_2191-230delinsGAC