Canonical Allele Identifier: CA633479976

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 2024178
• ClinVar RCV Id: RCV002863123
• dbSNP Id: rs1312336997
• gnomAD v2: 19-45867361-CGTCT-C
• gnomAD v4: 19-45364103-CGTCT-C
• MyVariant Identifiers: chr19:g.45867362_45867365del (hg19) ; chr19:g.45364104_45364107del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364108_45364111del , CM000681.2:g.45364108_45364111del	GRCh38
NC_000019.9:g.45867366_45867369del , CM000681.1:g.45867366_45867369del	GRCh37
NC_000019.8:g.50559206_50559209del	NCBI36
NG_007067.2:g.11481_11484del , LRG_461:g.11481_11484del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.828_831del	ENSP00000375808.4:p.Asp277SerfsTer?
ENST00000682414.1:c.828_831del	ENSP00000507019.1:p.Asp277SerfsTer?
ENST00000682508.1:n.857_860del
ENST00000684218.1:c.*86_*89del	ENSP00000507804.1:n.*86_*89del
ENST00000684407.1:c.705_708del	ENSP00000507775.1:p.Asp236SerfsTer?
ENST00000684458.1:c.828_831del	ENSP00000508260.1:p.Asp277SerfsTer?
ENST00000391945.10:c.828_831del MANE Select	ENSP00000375809.4:p.Asp277SerfsTer?
ENST00000586131.6:c.756_759del	ENSP00000464887.1:p.Asp253SerfsTer?
ENST00000646507.1:n.925_928del
ENST00000391941.6:c.756_759del	ENSP00000375805.2:p.Asp253SerfsTer?
ENST00000391944.7:c.594_597del	ENSP00000375808.3:p.Asp199SerfsTer?
ENST00000391945.8:c.828_831del	ENSP00000375809.3:p.Asp277SerfsTer?
ENST00000485403.6:c.756_759del	ENSP00000431229.2:p.Asp253SerfsTer?
ENST00000586131.5:c.756_759del	ENSP00000464887.1:p.Asp253SerfsTer?
ENST00000586737.5:n.465_468del
ENST00000591309.5:c.*86_*89del	ENSP00000465207.1:n.*86_*89del
NM_000400.3:c.828_831del , LRG_461t1:c.828_831del	NP_000391.1:p.Asp277SerfsTer?
NM_001130867.1:c.756_759del	NP_001124339.1:p.Asp253SerfsTer?
XM_011526611.1:c.750_753del	XP_011524913.1:p.Asp251SerfsTer?
XR_935763.1:n.875_878del
XM_011526611.2:c.750_753del	XP_011524913.1:p.Asp251SerfsTer?
XM_017026467.1:c.705_708del	XP_016881956.1:p.Asp236SerfsTer?
XR_001753633.2:n.875_878del
XR_001753634.2:n.875_878del
NM_000400.4:c.828_831del MANE Select	NP_000391.1:p.Asp277SerfsTer?
NM_001130867.2:c.756_759del	NP_001124339.1:p.Asp253SerfsTer?