Canonical Allele Identifier: CA2585785531

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352437-A-AAAT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352438_45352440dup , CM000681.2:g.45352438_45352440dup	GRCh38
NC_000019.9:g.45855696_45855698dup , CM000681.1:g.45855696_45855698dup	GRCh37
NC_000019.8:g.50547536_50547538dup	NCBI36
NG_007067.2:g.23148_23150dup , LRG_461:g.23148_23150dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2046+66_2046+68dup	ENSP00000375808.4:n.2046+66_2046+68dup
ENST00000682414.1:c.2046+66_2046+68dup	ENSP00000507019.1:n.2046+66_2046+68dup
ENST00000682508.1:n.2075+66_2075+68dup
ENST00000684218.1:c.*1304+66_*1304+68dup	ENSP00000507804.1:n.*1304+66_*1304+68dup
ENST00000684264.1:n.1602+66_1602+68dup
ENST00000684407.1:c.1923+66_1923+68dup	ENSP00000507775.1:n.1923+66_1923+68dup
ENST00000684458.1:c.*532+66_*532+68dup	ENSP00000508260.1:n.*532+66_*532+68dup
ENST00000684468.1:n.1758+66_1758+68dup
ENST00000391945.10:c.2046+66_2046+68dup MANE Select	ENSP00000375809.4:n.2046+66_2046+68dup
ENST00000646507.1:n.2143+66_2143+68dup
ENST00000391941.6:c.1974+66_1974+68dup	ENSP00000375805.2:n.1974+66_1974+68dup
ENST00000391942.6:n.1217+66_1217+68dup
ENST00000391944.7:c.1812+66_1812+68dup	ENSP00000375808.3:n.1812+66_1812+68dup
ENST00000391945.8:c.2046+66_2046+68dup	ENSP00000375809.3:n.2046+66_2046+68dup
ENST00000588652.5:n.2134+66_2134+68dup
NM_000400.3:c.2046+66_2046+68dup , LRG_461t1:c.2046+66_2046+68dup	NP_000391.1:n.2046+66_2046+68dup
XM_011526611.1:c.1968+66_1968+68dup	XP_011524913.1:n.1968+66_1968+68dup
XM_011526611.2:c.1968+66_1968+68dup	XP_011524913.1:n.1968+66_1968+68dup
XM_017026467.1:c.1923+66_1923+68dup	XP_016881956.1:n.1923+66_1923+68dup
XR_001753633.2:n.2093+66_2093+68dup
XR_001753634.2:n.2029+66_2029+68dup
NM_000400.4:c.2046+66_2046+68dup MANE Select	NP_000391.1:n.2046+66_2046+68dup