Canonical Allele Identifier: CA2585788656

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45364045-G-GCGCTGGCCTCC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364049_45364059dup , CM000681.2:g.45364049_45364059dup	GRCh38
NC_000019.9:g.45867307_45867317dup , CM000681.1:g.45867307_45867317dup	GRCh37
NC_000019.8:g.50559147_50559157dup	NCBI36
NG_007067.2:g.11532_11542dup , LRG_461:g.11532_11542dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.879_889dup	ENSP00000375808.4:p.Ala297GlyfsTer?
ENST00000682414.1:c.879_889dup	ENSP00000507019.1:p.Ala297GlyfsTer?
ENST00000682508.1:n.908_918dup
ENST00000684218.1:c.*137_*147dup	ENSP00000507804.1:n.*137_*147dup
ENST00000684407.1:c.756_766dup	ENSP00000507775.1:p.Ala256GlyfsTer?
ENST00000684458.1:c.879_889dup	ENSP00000508260.1:p.Ala297GlyfsTer?
ENST00000391945.10:c.879_889dup MANE Select	ENSP00000375809.4:p.Ala297GlyfsTer?
ENST00000586131.6:c.807_817dup	ENSP00000464887.1:p.Ala273GlyfsTer?
ENST00000646507.1:n.976_986dup
ENST00000391941.6:c.807_817dup	ENSP00000375805.2:p.Ala273GlyfsTer?
ENST00000391944.7:c.645_655dup	ENSP00000375808.3:p.Ala219GlyfsTer?
ENST00000391945.8:c.879_889dup	ENSP00000375809.3:p.Ala297GlyfsTer?
ENST00000485403.6:c.807_817dup	ENSP00000431229.2:p.Ala273GlyfsTer?
ENST00000586131.5:c.807_817dup	ENSP00000464887.1:p.Ala273GlyfsTer?
ENST00000591309.5:c.*137_*147dup	ENSP00000465207.1:n.*137_*147dup
NM_000400.3:c.879_889dup , LRG_461t1:c.879_889dup	NP_000391.1:p.Ala297GlyfsTer?
NM_001130867.1:c.807_817dup	NP_001124339.1:p.Ala273GlyfsTer?
XM_011526611.1:c.801_811dup	XP_011524913.1:p.Ala271GlyfsTer?
XR_935763.1:n.926_936dup
XM_011526611.2:c.801_811dup	XP_011524913.1:p.Ala271GlyfsTer?
XM_017026467.1:c.756_766dup	XP_016881956.1:p.Ala256GlyfsTer?
XR_001753633.2:n.926_936dup
XR_001753634.2:n.926_936dup
NM_000400.4:c.879_889dup MANE Select	NP_000391.1:p.Ala297GlyfsTer?
NM_001130867.2:c.807_817dup	NP_001124339.1:p.Ala273GlyfsTer?