Canonical Allele Identifier: CA2338388527

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352051_45352052delinsTC , CM000681.2:g.45352051_45352052delinsTC	GRCh38
NC_000019.9:g.45855309_45855310delinsTC , CM000681.1:g.45855309_45855310delinsTC	GRCh37
NC_000019.8:g.50547149_50547150delinsTC	NCBI36
NG_007067.2:g.23536_23537delinsGA , LRG_461:g.23536_23537delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2347_2348delinsGA	ENSP00000375808.4:p.Glu783=
ENST00000682414.1:c.2190+157_2190+158delinsGA	ENSP00000507019.1:n.2190+157_2190+158deli...
ENST00000682508.1:n.2219+157_2219+158delinsGA
ENST00000684218.1:c.*1448+157_*1448+158delinsGA	ENSP00000507804.1:n.*1448+157_*1448+158de...
ENST00000684264.1:n.1746+157_1746+158delinsGA
ENST00000684407.1:c.2067+157_2067+158delinsGA	ENSP00000507775.1:n.2067+157_2067+158deli...
ENST00000684458.1:c.*676+157_*676+158delinsGA	ENSP00000508260.1:n.*676+157_*676+158deli...
ENST00000684468.1:n.1902+157_1902+158delinsGA
ENST00000391945.10:c.2190+157_2190+158delinsGA MANE Select	ENSP00000375809.4:n.2190+157_2190+158deli...
ENST00000646507.1:n.2287+157_2287+158delinsGA
ENST00000391942.6:n.1361+157_1361+158delinsGA
ENST00000391944.7:c.1956+157_1956+158delinsGA	ENSP00000375808.3:n.1956+157_1956+158deli...
ENST00000391945.8:c.2190+157_2190+158delinsGA	ENSP00000375809.3:n.2190+157_2190+158deli...
ENST00000588652.5:n.2278+157_2278+158delinsGA
NM_000400.3:c.2190+157_2190+158delinsGA , LRG_461t1:c.2190+157_2190+158delinsGA	NP_000391.1:n.2190+157_2190+158delinsGA
XM_011526611.1:c.2112+157_2112+158delinsGA	XP_011524913.1:n.2112+157_2112+158delinsG...
XM_011526611.2:c.2112+157_2112+158delinsGA	XP_011524913.1:n.2112+157_2112+158delinsG...
XM_017026467.1:c.2067+157_2067+158delinsGA	XP_016881956.1:n.2067+157_2067+158delinsG...
XR_001753633.2:n.2237+157_2237+158delinsGA
XR_001753634.2:n.2173+157_2173+158delinsGA
NM_000400.4:c.2190+157_2190+158delinsGA MANE Select	NP_000391.1:n.2190+157_2190+158delinsGA