Canonical Allele Identifier: CA2585785535

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352444-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352447dup , CM000681.2:g.45352447dup	GRCh38
NC_000019.9:g.45855705dup , CM000681.1:g.45855705dup	GRCh37
NC_000019.8:g.50547545dup	NCBI36
NG_007067.2:g.23143dup , LRG_461:g.23143dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2046+61dup	ENSP00000375808.4:n.2046+61dup
ENST00000682414.1:c.2046+61dup	ENSP00000507019.1:n.2046+61dup
ENST00000682508.1:n.2075+61dup
ENST00000684218.1:c.*1304+61dup	ENSP00000507804.1:n.*1304+61dup
ENST00000684264.1:n.1602+61dup
ENST00000684407.1:c.1923+61dup	ENSP00000507775.1:n.1923+61dup
ENST00000684458.1:c.*532+61dup	ENSP00000508260.1:n.*532+61dup
ENST00000684468.1:n.1758+61dup
ENST00000391945.10:c.2046+61dup MANE Select	ENSP00000375809.4:n.2046+61dup
ENST00000646507.1:n.2143+61dup
ENST00000391941.6:c.1974+61dup	ENSP00000375805.2:n.1974+61dup
ENST00000391942.6:n.1217+61dup
ENST00000391944.7:c.1812+61dup	ENSP00000375808.3:n.1812+61dup
ENST00000391945.8:c.2046+61dup	ENSP00000375809.3:n.2046+61dup
ENST00000588652.5:n.2134+61dup
NM_000400.3:c.2046+61dup , LRG_461t1:c.2046+61dup	NP_000391.1:n.2046+61dup
XM_011526611.1:c.1968+61dup	XP_011524913.1:n.1968+61dup
XM_011526611.2:c.1968+61dup	XP_011524913.1:n.1968+61dup
XM_017026467.1:c.1923+61dup	XP_016881956.1:n.1923+61dup
XR_001753633.2:n.2093+61dup
XR_001753634.2:n.2029+61dup
NM_000400.4:c.2046+61dup MANE Select	NP_000391.1:n.2046+61dup