Canonical Allele Identifier: CA2740096931

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 3023764
• ClinVar RCV Id: RCV003880859

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352803_45352806del , CM000681.2:g.45352803_45352806del	GRCh38
NC_000019.9:g.45856061_45856064del , CM000681.1:g.45856061_45856064del	GRCh37
NC_000019.8:g.50547901_50547904del	NCBI36
NG_007067.2:g.22787_22790del , LRG_461:g.22787_22790del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1847_1850del	ENSP00000375808.4:p.Arg616ProfsTer?
ENST00000682414.1:c.1847_1850del	ENSP00000507019.1:p.Arg616ProfsTer?
ENST00000682508.1:n.1876_1879del
ENST00000684218.1:c.*1105_*1108del	ENSP00000507804.1:n.*1105_*1108del
ENST00000684264.1:n.1403_1406del
ENST00000684407.1:c.1724_1727del	ENSP00000507775.1:p.Arg575ProfsTer?
ENST00000684458.1:c.*333_*336del	ENSP00000508260.1:n.*333_*336del
ENST00000684468.1:n.1559_1562del
ENST00000391945.10:c.1847_1850del MANE Select	ENSP00000375809.4:p.Arg616ProfsTer?
ENST00000646507.1:n.1944_1947del
ENST00000391941.6:c.1775_1778del	ENSP00000375805.2:p.Arg592ProfsTer?
ENST00000391942.6:n.1018_1021del
ENST00000391944.7:c.1613_1616del	ENSP00000375808.3:p.Arg538ProfsTer?
ENST00000391945.8:c.1847_1850del	ENSP00000375809.3:p.Arg616ProfsTer?
ENST00000588652.5:n.1935_1938del
NM_000400.3:c.1847_1850del , LRG_461t1:c.1847_1850del	NP_000391.1:p.Arg616ProfsTer?
XM_011526611.1:c.1769_1772del	XP_011524913.1:p.Arg590ProfsTer?
XM_011526611.2:c.1769_1772del	XP_011524913.1:p.Arg590ProfsTer?
XM_017026467.1:c.1724_1727del	XP_016881956.1:p.Arg575ProfsTer?
XR_001753633.2:n.1894_1897del
XR_001753634.2:n.1830_1833del
NM_000400.4:c.1847_1850del MANE Select	NP_000391.1:p.Arg616ProfsTer?