Canonical Allele Identifier: CA2739276867

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 2865210
• ClinVar RCV Id: RCV003697668

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364108_45364109del , CM000681.2:g.45364108_45364109del	GRCh38
NC_000019.9:g.45867366_45867367del , CM000681.1:g.45867366_45867367del	GRCh37
NC_000019.8:g.50559206_50559207del	NCBI36
NG_007067.2:g.11480_11481del , LRG_461:g.11480_11481del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.827_828del	ENSP00000375808.4:p.Thr276ArgfsTer?
ENST00000682414.1:c.827_828del	ENSP00000507019.1:p.Thr276ArgfsTer?
ENST00000682508.1:n.856_857del
ENST00000684218.1:c.*85_*86del	ENSP00000507804.1:n.*85_*86del
ENST00000684407.1:c.704_705del	ENSP00000507775.1:p.Thr235ArgfsTer?
ENST00000684458.1:c.827_828del	ENSP00000508260.1:p.Thr276ArgfsTer?
ENST00000391945.10:c.827_828del MANE Select	ENSP00000375809.4:p.Thr276ArgfsTer?
ENST00000586131.6:c.755_756del	ENSP00000464887.1:p.Thr252ArgfsTer?
ENST00000646507.1:n.924_925del
ENST00000391941.6:c.755_756del	ENSP00000375805.2:p.Thr252ArgfsTer?
ENST00000391944.7:c.593_594del	ENSP00000375808.3:p.Thr198ArgfsTer?
ENST00000391945.8:c.827_828del	ENSP00000375809.3:p.Thr276ArgfsTer?
ENST00000485403.6:c.755_756del	ENSP00000431229.2:p.Thr252ArgfsTer?
ENST00000586131.5:c.755_756del	ENSP00000464887.1:p.Thr252ArgfsTer?
ENST00000586737.5:n.464_465del
ENST00000591309.5:c.*85_*86del	ENSP00000465207.1:n.*85_*86del
NM_000400.3:c.827_828del , LRG_461t1:c.827_828del	NP_000391.1:p.Thr276ArgfsTer?
NM_001130867.1:c.755_756del	NP_001124339.1:p.Thr252ArgfsTer?
XM_011526611.1:c.749_750del	XP_011524913.1:p.Thr250ArgfsTer?
XR_935763.1:n.874_875del
XM_011526611.2:c.749_750del	XP_011524913.1:p.Thr250ArgfsTer?
XM_017026467.1:c.704_705del	XP_016881956.1:p.Thr235ArgfsTer?
XR_001753633.2:n.874_875del
XR_001753634.2:n.874_875del
NM_000400.4:c.827_828del MANE Select	NP_000391.1:p.Thr276ArgfsTer?
NM_001130867.2:c.755_756del	NP_001124339.1:p.Thr252ArgfsTer?