Canonical Allele Identifier: CA2338388773

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352364_45352370delinsAGCGCAG , CM000681.2:g.45352364_45352370delinsAGCGCAG	GRCh38
NC_000019.9:g.45855622_45855628delinsAGCGCAG , CM000681.1:g.45855622_45855628delinsAGCGCAG	GRCh37
NC_000019.8:g.50547462_50547468delinsAGCGCAG	NCBI36
NG_007067.2:g.23218_23224delinsCTGCGCT , LRG_461:g.23218_23224delinsCTGCGCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2047-18_2047-12delinsCTGCGCT	ENSP00000375808.4:n.2047-18_2047-12delins...
ENST00000682414.1:c.2047-18_2047-12delinsCTGCGCT	ENSP00000507019.1:n.2047-18_2047-12delins...
ENST00000682508.1:n.2076-18_2076-12delinsCTGCGCT
ENST00000684218.1:c.*1305-18_*1305-12delinsCTGCGCT	ENSP00000507804.1:n.*1305-18_*1305-12deli...
ENST00000684264.1:n.1603-18_1603-12delinsCTGCGCT
ENST00000684407.1:c.1924-18_1924-12delinsCTGCGCT	ENSP00000507775.1:n.1924-18_1924-12delins...
ENST00000684458.1:c.*533-18_*533-12delinsCTGCGCT	ENSP00000508260.1:n.*533-18_*533-12delins...
ENST00000684468.1:n.1759-18_1759-12delinsCTGCGCT
ENST00000391945.10:c.2047-18_2047-12delinsCTGCGCT MANE Select	ENSP00000375809.4:n.2047-18_2047-12delins...
ENST00000646507.1:n.2144-18_2144-12delinsCTGCGCT
ENST00000391941.6:c.1975-18_1975-12delinsCTGCGCT	ENSP00000375805.2:n.1975-18_1975-12delins...
ENST00000391942.6:n.1218-18_1218-12delinsCTGCGCT
ENST00000391944.7:c.1813-18_1813-12delinsCTGCGCT	ENSP00000375808.3:n.1813-18_1813-12delins...
ENST00000391945.8:c.2047-18_2047-12delinsCTGCGCT	ENSP00000375809.3:n.2047-18_2047-12delins...
ENST00000588652.5:n.2135-18_2135-12delinsCTGCGCT
NM_000400.3:c.2047-18_2047-12delinsCTGCGCT , LRG_461t1:c.2047-18_2047-12delinsCTGCGCT	NP_000391.1:n.2047-18_2047-12delinsCTGCGC...
XM_011526611.1:c.1969-18_1969-12delinsCTGCGCT	XP_011524913.1:n.1969-18_1969-12delinsCTG...
XM_011526611.2:c.1969-18_1969-12delinsCTGCGCT	XP_011524913.1:n.1969-18_1969-12delinsCTG...
XM_017026467.1:c.1924-18_1924-12delinsCTGCGCT	XP_016881956.1:n.1924-18_1924-12delinsCTG...
XR_001753633.2:n.2094-18_2094-12delinsCTGCGCT
XR_001753634.2:n.2030-18_2030-12delinsCTGCGCT
NM_000400.4:c.2047-18_2047-12delinsCTGCGCT MANE Select	NP_000391.1:n.2047-18_2047-12delinsCTGCGC...