Canonical Allele Identifier: CA2585785487

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352322-G-GCTT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352324_45352326dup , CM000681.2:g.45352324_45352326dup	GRCh38
NC_000019.9:g.45855582_45855584dup , CM000681.1:g.45855582_45855584dup	GRCh37
NC_000019.8:g.50547422_50547424dup	NCBI36
NG_007067.2:g.23263_23265dup , LRG_461:g.23263_23265dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2074_2076dup	ENSP00000375808.4:p.Lys692_Leu693insLys
ENST00000682414.1:c.2074_2076dup	ENSP00000507019.1:p.Lys692_Leu693insLys
ENST00000682508.1:n.2103_2105dup
ENST00000684218.1:c.*1332_*1334dup	ENSP00000507804.1:n.*1332_*1334dup
ENST00000684264.1:n.1630_1632dup
ENST00000684407.1:c.1951_1953dup	ENSP00000507775.1:p.Lys651_Leu652insLys
ENST00000684458.1:c.*560_*562dup	ENSP00000508260.1:n.*560_*562dup
ENST00000684468.1:n.1786_1788dup
ENST00000391945.10:c.2074_2076dup MANE Select	ENSP00000375809.4:p.Lys692_Leu693insLys
ENST00000646507.1:n.2171_2173dup
ENST00000391941.6:c.2002_2004dup	ENSP00000375805.2:p.Lys668_Leu669insLys
ENST00000391942.6:n.1245_1247dup
ENST00000391944.7:c.1840_1842dup	ENSP00000375808.3:p.Lys614_Leu615insLys
ENST00000391945.8:c.2074_2076dup	ENSP00000375809.3:p.Lys692_Leu693insLys
ENST00000588652.5:n.2162_2164dup
NM_000400.3:c.2074_2076dup , LRG_461t1:c.2074_2076dup	NP_000391.1:p.Lys692_Leu693insLys
XM_011526611.1:c.1996_1998dup	XP_011524913.1:p.Lys666_Leu667insLys
XM_011526611.2:c.1996_1998dup	XP_011524913.1:p.Lys666_Leu667insLys
XM_017026467.1:c.1951_1953dup	XP_016881956.1:p.Lys651_Leu652insLys
XR_001753633.2:n.2121_2123dup
XR_001753634.2:n.2057_2059dup
NM_000400.4:c.2074_2076dup MANE Select	NP_000391.1:p.Lys692_Leu693insLys