Canonical Allele Identifier: CA2838634610

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364101dup , CM000681.2:g.45364101dup	GRCh38
NC_000019.9:g.45867359dup , CM000681.1:g.45867359dup	GRCh37
NC_000019.8:g.50559199dup	NCBI36
NG_007067.2:g.11487dup , LRG_461:g.11487dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.834dup	ENSP00000375808.4:p.Gln279AlafsTer?
ENST00000682414.1:c.834dup	ENSP00000507019.1:p.Gln279AlafsTer?
ENST00000682508.1:n.863dup
ENST00000684218.1:c.*92dup	ENSP00000507804.1:n.*92dup
ENST00000684407.1:c.711dup	ENSP00000507775.1:p.Gln238AlafsTer?
ENST00000684458.1:c.834dup	ENSP00000508260.1:p.Gln279AlafsTer?
ENST00000391945.10:c.834dup MANE Select	ENSP00000375809.4:p.Gln279AlafsTer?
ENST00000586131.6:c.762dup	ENSP00000464887.1:p.Gln255AlafsTer?
ENST00000646507.1:n.931dup
ENST00000391941.6:c.762dup	ENSP00000375805.2:p.Gln255AlafsTer?
ENST00000391944.7:c.600dup	ENSP00000375808.3:p.Gln201AlafsTer?
ENST00000391945.8:c.834dup	ENSP00000375809.3:p.Gln279AlafsTer?
ENST00000485403.6:c.762dup	ENSP00000431229.2:p.Gln255AlafsTer?
ENST00000586131.5:c.762dup	ENSP00000464887.1:p.Gln255AlafsTer?
ENST00000586737.5:n.471dup
ENST00000591309.5:c.*92dup	ENSP00000465207.1:n.*92dup
NM_000400.3:c.834dup , LRG_461t1:c.834dup	NP_000391.1:p.Gln279AlafsTer?
NM_001130867.1:c.762dup	NP_001124339.1:p.Gln255AlafsTer?
XM_011526611.1:c.756dup	XP_011524913.1:p.Gln253AlafsTer?
XR_935763.1:n.881dup
XM_011526611.2:c.756dup	XP_011524913.1:p.Gln253AlafsTer?
XM_017026467.1:c.711dup	XP_016881956.1:p.Gln238AlafsTer?
XR_001753633.2:n.881dup
XR_001753634.2:n.881dup
NM_000400.4:c.834dup MANE Select	NP_000391.1:p.Gln279AlafsTer?
NM_001130867.2:c.762dup	NP_001124339.1:p.Gln255AlafsTer?