Canonical Allele Identifier: CA2695198228

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 2675066
• ClinVar RCV Id: RCV003475595 ; RCV003720915

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352784del , CM000681.2:g.45352784del	GRCh38
NC_000019.9:g.45856042del , CM000681.1:g.45856042del	GRCh37
NC_000019.8:g.50547882del	NCBI36
NG_007067.2:g.22805del , LRG_461:g.22805del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1865del	ENSP00000375808.4:p.Gly622AlafsTer?
ENST00000682414.1:c.1865del	ENSP00000507019.1:p.Gly622AlafsTer?
ENST00000682508.1:n.1894del
ENST00000684218.1:c.*1123del	ENSP00000507804.1:n.*1123del
ENST00000684264.1:n.1421del
ENST00000684407.1:c.1742del	ENSP00000507775.1:p.Gly581AlafsTer?
ENST00000684458.1:c.*351del	ENSP00000508260.1:n.*351del
ENST00000684468.1:n.1577del
ENST00000391945.10:c.1865del MANE Select	ENSP00000375809.4:p.Gly622AlafsTer?
ENST00000646507.1:n.1962del
ENST00000391941.6:c.1793del	ENSP00000375805.2:p.Gly598AlafsTer?
ENST00000391942.6:n.1036del
ENST00000391944.7:c.1631del	ENSP00000375808.3:p.Gly544AlafsTer?
ENST00000391945.8:c.1865del	ENSP00000375809.3:p.Gly622AlafsTer?
ENST00000588652.5:n.1953del
NM_000400.3:c.1865del , LRG_461t1:c.1865del	NP_000391.1:p.Gly622AlafsTer?
XM_011526611.1:c.1787del	XP_011524913.1:p.Gly596AlafsTer?
XM_011526611.2:c.1787del	XP_011524913.1:p.Gly596AlafsTer?
XM_017026467.1:c.1742del	XP_016881956.1:p.Gly581AlafsTer?
XR_001753633.2:n.1912del
XR_001753634.2:n.1848del
NM_000400.4:c.1865del MANE Select	NP_000391.1:p.Gly622AlafsTer?