Canonical Allele Identifier: CA2585785427

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352122-A-AGGGCGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352125_45352126insCGGGGGG , CM000681.2:g.45352125_45352126insCGGGGGG	GRCh38
NC_000019.9:g.45855383_45855384insCGGGGGG , CM000681.1:g.45855383_45855384insCGGGGGG	GRCh37
NC_000019.8:g.50547223_50547224insCGGGGGG	NCBI36
NG_007067.2:g.23465_23466insCCCGCCC , LRG_461:g.23465_23466insCCCGCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2276_2277insCCCGCCC	ENSP00000375808.4:p.Gln760ProfsTer?
ENST00000682414.1:c.2190+86_2190+87insCCCGCCC	ENSP00000507019.1:n.2190+86_2190+87insCCCGCCC
ENST00000682508.1:n.2219+86_2219+87insCCCGCCC
ENST00000684218.1:c.*1448+86_*1448+87insCCCGCCC	ENSP00000507804.1:n.*1448+86_*1448+87insCCCGCCC
ENST00000684264.1:n.1746+86_1746+87insCCCGCCC
ENST00000684407.1:c.2067+86_2067+87insCCCGCCC	ENSP00000507775.1:n.2067+86_2067+87insCCCGCCC
ENST00000684458.1:c.*676+86_*676+87insCCCGCCC	ENSP00000508260.1:n.*676+86_*676+87insCCCGCCC
ENST00000684468.1:n.1902+86_1902+87insCCCGCCC
ENST00000391945.10:c.2190+86_2190+87insCCCGCCC MANE Select	ENSP00000375809.4:n.2190+86_2190+87insCCCGCCC
ENST00000646507.1:n.2287+86_2287+87insCCCGCCC
ENST00000391942.6:n.1361+86_1361+87insCCCGCCC
ENST00000391944.7:c.1956+86_1956+87insCCCGCCC	ENSP00000375808.3:n.1956+86_1956+87insCCCGCCC
ENST00000391945.8:c.2190+86_2190+87insCCCGCCC	ENSP00000375809.3:n.2190+86_2190+87insCCCGCCC
ENST00000588652.5:n.2278+86_2278+87insCCCGCCC
NM_000400.3:c.2190+86_2190+87insCCCGCCC , LRG_461t1:c.2190+86_2190+87insCCCGCCC	NP_000391.1:n.2190+86_2190+87insCCCGCCC
XM_011526611.1:c.2112+86_2112+87insCCCGCCC	XP_011524913.1:n.2112+86_2112+87insCCCGCCC
XM_011526611.2:c.2112+86_2112+87insCCCGCCC	XP_011524913.1:n.2112+86_2112+87insCCCGCCC
XM_017026467.1:c.2067+86_2067+87insCCCGCCC	XP_016881956.1:n.2067+86_2067+87insCCCGCCC
XR_001753633.2:n.2237+86_2237+87insCCCGCCC
XR_001753634.2:n.2173+86_2173+87insCCCGCCC
NM_000400.4:c.2190+86_2190+87insCCCGCCC MANE Select	NP_000391.1:n.2190+86_2190+87insCCCGCCC