Canonical Allele Identifier: CA2338388428

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45351938_45351940delinsCCA , CM000681.2:g.45351938_45351940delinsCCA	GRCh38
NC_000019.9:g.45855196_45855198delinsCCA , CM000681.1:g.45855196_45855198delinsCCA	GRCh37
NC_000019.8:g.50547036_50547038delinsCCA	NCBI36
NG_007067.2:g.23648_23650delinsTGG , LRG_461:g.23648_23650delinsTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2459_2461delinsTGG	ENSP00000375808.4:p.Leu820=
ENST00000682414.1:c.2191-219_2191-217delinsTGG	ENSP00000507019.1:n.2191-219_2191-217delinsTGG
ENST00000682508.1:n.2220-219_2220-217delinsTGG
ENST00000684218.1:c.*1449-219_*1449-217delinsTGG	ENSP00000507804.1:n.*1449-219_*1449-217delinsTGG
ENST00000684264.1:n.1747-219_1747-217delinsTGG
ENST00000684407.1:c.2068-219_2068-217delinsTGG	ENSP00000507775.1:n.2068-219_2068-217delinsTGG
ENST00000684458.1:c.*677-219_*677-217delinsTGG	ENSP00000508260.1:n.*677-219_*677-217delinsTGG
ENST00000684468.1:n.1903-219_1903-217delinsTGG
ENST00000391945.10:c.2191-219_2191-217delinsTGG MANE Select	ENSP00000375809.4:n.2191-219_2191-217delinsTGG
ENST00000646507.1:n.2288-219_2288-217delinsTGG
ENST00000391942.6:n.1362-219_1362-217delinsTGG
ENST00000391944.7:c.1957-219_1957-217delinsTGG	ENSP00000375808.3:n.1957-219_1957-217delinsTGG
ENST00000391945.8:c.2191-219_2191-217delinsTGG	ENSP00000375809.3:n.2191-219_2191-217delinsTGG
ENST00000588652.5:n.2279-219_2279-217delinsTGG
NM_000400.3:c.2191-219_2191-217delinsTGG , LRG_461t1:c.2191-219_2191-217delinsTGG	NP_000391.1:n.2191-219_2191-217delinsTGG
XM_011526611.1:c.2113-219_2113-217delinsTGG	XP_011524913.1:n.2113-219_2113-217delinsTGG
XM_011526611.2:c.2113-219_2113-217delinsTGG	XP_011524913.1:n.2113-219_2113-217delinsTGG
XM_017026467.1:c.2068-219_2068-217delinsTGG	XP_016881956.1:n.2068-219_2068-217delinsTGG
XR_001753633.2:n.2238-219_2238-217delinsTGG
XR_001753634.2:n.2174-219_2174-217delinsTGG
NM_000400.4:c.2191-219_2191-217delinsTGG MANE Select	NP_000391.1:n.2191-219_2191-217delinsTGG