Canonical Allele Identifier: CA2338388547

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352071_45352073delinsTAG , CM000681.2:g.45352071_45352073delinsTAG	GRCh38
NC_000019.9:g.45855329_45855331delinsTAG , CM000681.1:g.45855329_45855331delinsTAG	GRCh37
NC_000019.8:g.50547169_50547171delinsTAG	NCBI36
NG_007067.2:g.23515_23517delinsCTA , LRG_461:g.23515_23517delinsCTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2326_2328delinsCTA	ENSP00000375808.4:p.Leu776=
ENST00000682414.1:c.2190+136_2190+138delinsCTA	ENSP00000507019.1:n.2190+136_2190+138deli...
ENST00000682508.1:n.2219+136_2219+138delinsCTA
ENST00000684218.1:c.*1448+136_*1448+138delinsCTA	ENSP00000507804.1:n.*1448+136_*1448+138de...
ENST00000684264.1:n.1746+136_1746+138delinsCTA
ENST00000684407.1:c.2067+136_2067+138delinsCTA	ENSP00000507775.1:n.2067+136_2067+138deli...
ENST00000684458.1:c.*676+136_*676+138delinsCTA	ENSP00000508260.1:n.*676+136_*676+138deli...
ENST00000684468.1:n.1902+136_1902+138delinsCTA
ENST00000391945.10:c.2190+136_2190+138delinsCTA MANE Select	ENSP00000375809.4:n.2190+136_2190+138deli...
ENST00000646507.1:n.2287+136_2287+138delinsCTA
ENST00000391942.6:n.1361+136_1361+138delinsCTA
ENST00000391944.7:c.1956+136_1956+138delinsCTA	ENSP00000375808.3:n.1956+136_1956+138deli...
ENST00000391945.8:c.2190+136_2190+138delinsCTA	ENSP00000375809.3:n.2190+136_2190+138deli...
ENST00000588652.5:n.2278+136_2278+138delinsCTA
NM_000400.3:c.2190+136_2190+138delinsCTA , LRG_461t1:c.2190+136_2190+138delinsCTA	NP_000391.1:n.2190+136_2190+138delinsCTA
XM_011526611.1:c.2112+136_2112+138delinsCTA	XP_011524913.1:n.2112+136_2112+138delinsC...
XM_011526611.2:c.2112+136_2112+138delinsCTA	XP_011524913.1:n.2112+136_2112+138delinsC...
XM_017026467.1:c.2067+136_2067+138delinsCTA	XP_016881956.1:n.2067+136_2067+138delinsC...
XR_001753633.2:n.2237+136_2237+138delinsCTA
XR_001753634.2:n.2173+136_2173+138delinsCTA
NM_000400.4:c.2190+136_2190+138delinsCTA MANE Select	NP_000391.1:n.2190+136_2190+138delinsCTA