Canonical Allele Identifier: CA2338388886

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 1028729
• ClinVar RCV Id: RCV001329854 ; RCV001859268 ; RCV003469558
• dbSNP Id: rs1971844960
• gnomAD v4: 19-45352545-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352545_45352546insT , CM000681.2:g.45352545_45352546insT	GRCh38
NC_000019.9:g.45855803_45855804insT , CM000681.1:g.45855803_45855804insT	GRCh37
NC_000019.8:g.50547643_50547644insT	NCBI36
NG_007067.2:g.23042_23043insA , LRG_461:g.23042_23043insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2006_2007insA	ENSP00000375808.4:p.Lys671GlnfsTer?
ENST00000682414.1:c.2006_2007insA	ENSP00000507019.1:p.Lys671GlnfsTer?
ENST00000682508.1:n.2035_2036insA
ENST00000684218.1:c.*1264_*1265insA	ENSP00000507804.1:n.*1264_*1265insA
ENST00000684264.1:n.1562_1563insA
ENST00000684407.1:c.1883_1884insA	ENSP00000507775.1:p.Lys630GlnfsTer?
ENST00000684458.1:c.*492_*493insA	ENSP00000508260.1:n.*492_*493insA
ENST00000684468.1:n.1718_1719insA
ENST00000391945.10:c.2006_2007insA MANE Select	ENSP00000375809.4:p.Lys671GlnfsTer?
ENST00000646507.1:n.2103_2104insA
ENST00000391941.6:c.1934_1935insA	ENSP00000375805.2:p.Lys647GlnfsTer?
ENST00000391942.6:n.1177_1178insA
ENST00000391944.7:c.1772_1773insA	ENSP00000375808.3:p.Lys593GlnfsTer?
ENST00000391945.8:c.2006_2007insA	ENSP00000375809.3:p.Lys671GlnfsTer?
ENST00000588652.5:n.2094_2095insA
NM_000400.3:c.2006_2007insA , LRG_461t1:c.2006_2007insA	NP_000391.1:p.Lys671GlnfsTer?
XM_011526611.1:c.1928_1929insA	XP_011524913.1:p.Lys645GlnfsTer?
XM_011526611.2:c.1928_1929insA	XP_011524913.1:p.Lys645GlnfsTer?
XM_017026467.1:c.1883_1884insA	XP_016881956.1:p.Lys630GlnfsTer?
XR_001753633.2:n.2053_2054insA
XR_001753634.2:n.1989_1990insA
NM_000400.4:c.2006_2007insA MANE Select	NP_000391.1:p.Lys671GlnfsTer?