Canonical Allele Identifier: CA2585785486

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352292-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352295_45352296del , CM000681.2:g.45352295_45352296del	GRCh38
NC_000019.9:g.45855553_45855554del , CM000681.1:g.45855553_45855554del	GRCh37
NC_000019.8:g.50547393_50547394del	NCBI36
NG_007067.2:g.23294_23295del , LRG_461:g.23294_23295del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2105_2106del	ENSP00000375808.4:p.Thr702ArgfsTer?
ENST00000682414.1:c.2105_2106del	ENSP00000507019.1:p.Thr702ArgfsTer?
ENST00000682508.1:n.2134_2135del
ENST00000684218.1:c.*1363_*1364del	ENSP00000507804.1:n.*1363_*1364del
ENST00000684264.1:n.1661_1662del
ENST00000684407.1:c.1982_1983del	ENSP00000507775.1:p.Thr661ArgfsTer?
ENST00000684458.1:c.*591_*592del	ENSP00000508260.1:n.*591_*592del
ENST00000684468.1:n.1817_1818del
ENST00000391945.10:c.2105_2106del MANE Select	ENSP00000375809.4:p.Thr702ArgfsTer?
ENST00000646507.1:n.2202_2203del
ENST00000391941.6:c.2033_2034del	ENSP00000375805.2:p.Thr678ArgfsTer?
ENST00000391942.6:n.1276_1277del
ENST00000391944.7:c.1871_1872del	ENSP00000375808.3:p.Thr624ArgfsTer?
ENST00000391945.8:c.2105_2106del	ENSP00000375809.3:p.Thr702ArgfsTer?
ENST00000588652.5:n.2193_2194del
NM_000400.3:c.2105_2106del , LRG_461t1:c.2105_2106del	NP_000391.1:p.Thr702ArgfsTer?
XM_011526611.1:c.2027_2028del	XP_011524913.1:p.Thr676ArgfsTer?
XM_011526611.2:c.2027_2028del	XP_011524913.1:p.Thr676ArgfsTer?
XM_017026467.1:c.1982_1983del	XP_016881956.1:p.Thr661ArgfsTer?
XR_001753633.2:n.2152_2153del
XR_001753634.2:n.2088_2089del
NM_000400.4:c.2105_2106del MANE Select	NP_000391.1:p.Thr702ArgfsTer?