Canonical Allele Identifier: CA3047154229

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45351723_45352209del , CM000681.2:g.45351723_45352209del	GRCh38
NC_000019.9:g.45854981_45855467del , CM000681.1:g.45854981_45855467del	GRCh37
NC_000019.8:g.50546821_50547307del	NCBI36
NG_007067.2:g.23381_23867del , LRG_461:g.23381_23867del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2192_*188del	ENSP00000375808.4:n.[c.2192_*188del;Val731GlufsTer?]
ENST00000682414.1:c.2190+2_2191del
ENST00000682508.1:n.2219+2_2220del
ENST00000684218.1:c.*1448+2_*1449del
ENST00000684264.1:n.1746+2_1747del
ENST00000684407.1:c.2067+2_2068del
ENST00000684458.1:c.*676+2_*677del
ENST00000684468.1:n.1902+2_1903del
ENST00000391945.10:c.2190+2_2191del
ENST00000646507.1:n.2287+2_2288del
ENST00000391942.6:n.1361+2_1362del
ENST00000391944.7:c.1956+2_1957del
ENST00000391945.8:c.2190+2_2191del
ENST00000588652.5:n.2278+2_2279del
NM_000400.3:c.2190+2_2191del , LRG_461t1:c.2190+2_2191del
XM_011526611.1:c.2112+2_2113del
XM_011526611.2:c.2112+2_2113del
XM_017026467.1:c.2067+2_2068del
XR_001753633.2:n.2237+2_2238del
XR_001753634.2:n.2173+2_2174del
NM_000400.4:c.2190+2_2191del