Canonical Allele Identifier: CA2338388459

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45351977_45351979delinsCCT , CM000681.2:g.45351977_45351979delinsCCT	GRCh38
NC_000019.9:g.45855235_45855237delinsCCT , CM000681.1:g.45855235_45855237delinsCCT	GRCh37
NC_000019.8:g.50547075_50547077delinsCCT	NCBI36
NG_007067.2:g.23609_23611delinsAGG , LRG_461:g.23609_23611delinsAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2420_2422delinsAGG	ENSP00000375808.4:p.Glu807=
ENST00000682414.1:c.2190+230_2190+232delinsAGG	ENSP00000507019.1:n.2190+230_2190+232delinsAGG
ENST00000682508.1:n.2219+230_2219+232delinsAGG
ENST00000684218.1:c.*1448+230_*1448+232delinsAGG	ENSP00000507804.1:n.*1448+230_*1448+232delinsAGG
ENST00000684264.1:n.1746+230_1746+232delinsAGG
ENST00000684407.1:c.2067+230_2067+232delinsAGG	ENSP00000507775.1:n.2067+230_2067+232delinsAGG
ENST00000684458.1:c.*676+230_*676+232delinsAGG	ENSP00000508260.1:n.*676+230_*676+232delinsAGG
ENST00000684468.1:n.1902+230_1902+232delinsAGG
ENST00000391945.10:c.2190+230_2190+232delinsAGG MANE Select	ENSP00000375809.4:n.2190+230_2190+232delinsAGG
ENST00000646507.1:n.2287+230_2287+232delinsAGG
ENST00000391942.6:n.1361+230_1361+232delinsAGG
ENST00000391944.7:c.1956+230_1956+232delinsAGG	ENSP00000375808.3:n.1956+230_1956+232delinsAGG
ENST00000391945.8:c.2190+230_2190+232delinsAGG	ENSP00000375809.3:n.2190+230_2190+232delinsAGG
ENST00000588652.5:n.2278+230_2278+232delinsAGG
NM_000400.3:c.2190+230_2190+232delinsAGG , LRG_461t1:c.2190+230_2190+232delinsAGG	NP_000391.1:n.2190+230_2190+232delinsAGG
XM_011526611.1:c.2112+230_2112+232delinsAGG	XP_011524913.1:n.2112+230_2112+232delinsAGG
XM_011526611.2:c.2112+230_2112+232delinsAGG	XP_011524913.1:n.2112+230_2112+232delinsAGG
XM_017026467.1:c.2067+230_2067+232delinsAGG	XP_016881956.1:n.2067+230_2067+232delinsAGG
XR_001753633.2:n.2237+230_2237+232delinsAGG
XR_001753634.2:n.2173+230_2173+232delinsAGG
NM_000400.4:c.2190+230_2190+232delinsAGG MANE Select	NP_000391.1:n.2190+230_2190+232delinsAGG