Canonical Allele Identifier: CA2585788658

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45364097-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364098dup , CM000681.2:g.45364098dup	GRCh38
NC_000019.9:g.45867356dup , CM000681.1:g.45867356dup	GRCh37
NC_000019.8:g.50559196dup	NCBI36
NG_007067.2:g.11490dup , LRG_461:g.11490dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.837dup	ENSP00000375808.4:p.Arg280AlafsTer?
ENST00000682414.1:c.837dup	ENSP00000507019.1:p.Arg280AlafsTer?
ENST00000682508.1:n.866dup
ENST00000684218.1:c.*95dup	ENSP00000507804.1:n.*95dup
ENST00000684407.1:c.714dup	ENSP00000507775.1:p.Arg239AlafsTer?
ENST00000684458.1:c.837dup	ENSP00000508260.1:p.Arg280AlafsTer?
ENST00000391945.10:c.837dup MANE Select	ENSP00000375809.4:p.Arg280AlafsTer?
ENST00000586131.6:c.765dup	ENSP00000464887.1:p.Arg256AlafsTer?
ENST00000646507.1:n.934dup
ENST00000391941.6:c.765dup	ENSP00000375805.2:p.Arg256AlafsTer?
ENST00000391944.7:c.603dup	ENSP00000375808.3:p.Arg202AlafsTer?
ENST00000391945.8:c.837dup	ENSP00000375809.3:p.Arg280AlafsTer?
ENST00000485403.6:c.765dup	ENSP00000431229.2:p.Arg256AlafsTer?
ENST00000586131.5:c.765dup	ENSP00000464887.1:p.Arg256AlafsTer?
ENST00000586737.5:n.474dup
ENST00000591309.5:c.*95dup	ENSP00000465207.1:n.*95dup
NM_000400.3:c.837dup , LRG_461t1:c.837dup	NP_000391.1:p.Arg280AlafsTer?
NM_001130867.1:c.765dup	NP_001124339.1:p.Arg256AlafsTer?
XM_011526611.1:c.759dup	XP_011524913.1:p.Arg254AlafsTer?
XR_935763.1:n.884dup
XM_011526611.2:c.759dup	XP_011524913.1:p.Arg254AlafsTer?
XM_017026467.1:c.714dup	XP_016881956.1:p.Arg239AlafsTer?
XR_001753633.2:n.884dup
XR_001753634.2:n.884dup
NM_000400.4:c.837dup MANE Select	NP_000391.1:p.Arg280AlafsTer?
NM_001130867.2:c.765dup	NP_001124339.1:p.Arg256AlafsTer?