Canonical Allele Identifier: CA2573156454

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 1685773
• ClinVar RCV Id: RCV002249940
• dbSNP Id: rs2123288444

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364084del , CM000681.2:g.45364084del	GRCh38
NC_000019.9:g.45867342del , CM000681.1:g.45867342del	GRCh37
NC_000019.8:g.50559182del	NCBI36
NG_007067.2:g.11504del , LRG_461:g.11504del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.851del	ENSP00000375808.4:p.Glu284GlyfsTer?
ENST00000682414.1:c.851del	ENSP00000507019.1:p.Glu284GlyfsTer?
ENST00000682508.1:n.880del
ENST00000684218.1:c.*109del	ENSP00000507804.1:n.*109del
ENST00000684407.1:c.728del	ENSP00000507775.1:p.Glu243GlyfsTer?
ENST00000684458.1:c.851del	ENSP00000508260.1:p.Glu284GlyfsTer?
ENST00000391945.10:c.851del MANE Select	ENSP00000375809.4:p.Glu284GlyfsTer?
ENST00000586131.6:c.779del	ENSP00000464887.1:p.Glu260GlyfsTer?
ENST00000646507.1:n.948del
ENST00000391941.6:c.779del	ENSP00000375805.2:p.Glu260GlyfsTer?
ENST00000391944.7:c.617del	ENSP00000375808.3:p.Glu206GlyfsTer?
ENST00000391945.8:c.851del	ENSP00000375809.3:p.Glu284GlyfsTer?
ENST00000485403.6:c.779del	ENSP00000431229.2:p.Glu260GlyfsTer?
ENST00000586131.5:c.779del	ENSP00000464887.1:p.Glu260GlyfsTer?
ENST00000591309.5:c.*109del	ENSP00000465207.1:n.*109del
NM_000400.3:c.851del , LRG_461t1:c.851del	NP_000391.1:p.Glu284GlyfsTer?
NM_001130867.1:c.779del	NP_001124339.1:p.Glu260GlyfsTer?
XM_011526611.1:c.773del	XP_011524913.1:p.Glu258GlyfsTer?
XR_935763.1:n.898del
XM_011526611.2:c.773del	XP_011524913.1:p.Glu258GlyfsTer?
XM_017026467.1:c.728del	XP_016881956.1:p.Glu243GlyfsTer?
XR_001753633.2:n.898del
XR_001753634.2:n.898del
NM_000400.4:c.851del MANE Select	NP_000391.1:p.Glu284GlyfsTer?
NM_001130867.2:c.779del	NP_001124339.1:p.Glu260GlyfsTer?