Canonical Allele Identifier: CA2338388498

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352018_45352019delinsTG , CM000681.2:g.45352018_45352019delinsTG	GRCh38
NC_000019.9:g.45855276_45855277delinsTG , CM000681.1:g.45855276_45855277delinsTG	GRCh37
NC_000019.8:g.50547116_50547117delinsTG	NCBI36
NG_007067.2:g.23569_23570delinsCA , LRG_461:g.23569_23570delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2380_2381delinsCA	ENSP00000375808.4:p.Gln794=
ENST00000682414.1:c.2190+190_2190+191delinsCA	ENSP00000507019.1:n.2190+190_2190+191delinsCA
ENST00000682508.1:n.2219+190_2219+191delinsCA
ENST00000684218.1:c.*1448+190_*1448+191delinsCA	ENSP00000507804.1:n.*1448+190_*1448+191delinsCA
ENST00000684264.1:n.1746+190_1746+191delinsCA
ENST00000684407.1:c.2067+190_2067+191delinsCA	ENSP00000507775.1:n.2067+190_2067+191delinsCA
ENST00000684458.1:c.*676+190_*676+191delinsCA	ENSP00000508260.1:n.*676+190_*676+191delinsCA
ENST00000684468.1:n.1902+190_1902+191delinsCA
ENST00000391945.10:c.2190+190_2190+191delinsCA MANE Select	ENSP00000375809.4:n.2190+190_2190+191delinsCA
ENST00000646507.1:n.2287+190_2287+191delinsCA
ENST00000391942.6:n.1361+190_1361+191delinsCA
ENST00000391944.7:c.1956+190_1956+191delinsCA	ENSP00000375808.3:n.1956+190_1956+191delinsCA
ENST00000391945.8:c.2190+190_2190+191delinsCA	ENSP00000375809.3:n.2190+190_2190+191delinsCA
ENST00000588652.5:n.2278+190_2278+191delinsCA
NM_000400.3:c.2190+190_2190+191delinsCA , LRG_461t1:c.2190+190_2190+191delinsCA	NP_000391.1:n.2190+190_2190+191delinsCA
XM_011526611.1:c.2112+190_2112+191delinsCA	XP_011524913.1:n.2112+190_2112+191delinsCA
XM_011526611.2:c.2112+190_2112+191delinsCA	XP_011524913.1:n.2112+190_2112+191delinsCA
XM_017026467.1:c.2067+190_2067+191delinsCA	XP_016881956.1:n.2067+190_2067+191delinsCA
XR_001753633.2:n.2237+190_2237+191delinsCA
XR_001753634.2:n.2173+190_2173+191delinsCA
NM_000400.4:c.2190+190_2190+191delinsCA MANE Select	NP_000391.1:n.2190+190_2190+191delinsCA