Canonical Allele Identifier: CA2338388462

Gene: ERCC2

Linked Data

• dbSNP Id: rs1971810200

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45351980dup , CM000681.2:g.45351980dup	GRCh38
NC_000019.9:g.45855238dup , CM000681.1:g.45855238dup	GRCh37
NC_000019.8:g.50547078dup	NCBI36
NG_007067.2:g.23608dup , LRG_461:g.23608dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2419dup	ENSP00000375808.4:p.Glu807GlyfsTer?
ENST00000682414.1:c.2190+229dup	ENSP00000507019.1:n.2190+229dup
ENST00000682508.1:n.2219+229dup
ENST00000684218.1:c.*1448+229dup	ENSP00000507804.1:n.*1448+229dup
ENST00000684264.1:n.1746+229dup
ENST00000684407.1:c.2067+229dup	ENSP00000507775.1:n.2067+229dup
ENST00000684458.1:c.*676+229dup	ENSP00000508260.1:n.*676+229dup
ENST00000684468.1:n.1902+229dup
ENST00000391945.10:c.2190+229dup MANE Select	ENSP00000375809.4:n.2190+229dup
ENST00000646507.1:n.2287+229dup
ENST00000391942.6:n.1361+229dup
ENST00000391944.7:c.1956+229dup	ENSP00000375808.3:n.1956+229dup
ENST00000391945.8:c.2190+229dup	ENSP00000375809.3:n.2190+229dup
ENST00000588652.5:n.2278+229dup
NM_000400.3:c.2190+229dup , LRG_461t1:c.2190+229dup	NP_000391.1:n.2190+229dup
XM_011526611.1:c.2112+229dup	XP_011524913.1:n.2112+229dup
XM_011526611.2:c.2112+229dup	XP_011524913.1:n.2112+229dup
XM_017026467.1:c.2067+229dup	XP_016881956.1:n.2067+229dup
XR_001753633.2:n.2237+229dup
XR_001753634.2:n.2173+229dup
NM_000400.4:c.2190+229dup MANE Select	NP_000391.1:n.2190+229dup