Canonical Allele Identifier: CA2585785432

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352126-T-TGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352130_45352131insGGGGGGG , CM000681.2:g.45352130_45352131insGGGGGGG	GRCh38
NC_000019.9:g.45855388_45855389insGGGGGGG , CM000681.1:g.45855388_45855389insGGGGGGG	GRCh37
NC_000019.8:g.50547228_50547229insGGGGGGG	NCBI36
NG_007067.2:g.23461_23462insCCCCCCC , LRG_461:g.23461_23462insCCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2272_2273insCCCCCCC	ENSP00000375808.4:p.His758ProfsTer?
ENST00000682414.1:c.2190+82_2190+83insCCCCCCC	ENSP00000507019.1:n.2190+82_2190+83insCCCCCCC
ENST00000682508.1:n.2219+82_2219+83insCCCCCCC
ENST00000684218.1:c.*1448+82_*1448+83insCCCCCCC	ENSP00000507804.1:n.*1448+82_*1448+83insCCCCCCC
ENST00000684264.1:n.1746+82_1746+83insCCCCCCC
ENST00000684407.1:c.2067+82_2067+83insCCCCCCC	ENSP00000507775.1:n.2067+82_2067+83insCCCCCCC
ENST00000684458.1:c.*676+82_*676+83insCCCCCCC	ENSP00000508260.1:n.*676+82_*676+83insCCCCCCC
ENST00000684468.1:n.1902+82_1902+83insCCCCCCC
ENST00000391945.10:c.2190+82_2190+83insCCCCCCC MANE Select	ENSP00000375809.4:n.2190+82_2190+83insCCCCCCC
ENST00000646507.1:n.2287+82_2287+83insCCCCCCC
ENST00000391942.6:n.1361+82_1361+83insCCCCCCC
ENST00000391944.7:c.1956+82_1956+83insCCCCCCC	ENSP00000375808.3:n.1956+82_1956+83insCCCCCCC
ENST00000391945.8:c.2190+82_2190+83insCCCCCCC	ENSP00000375809.3:n.2190+82_2190+83insCCCCCCC
ENST00000588652.5:n.2278+82_2278+83insCCCCCCC
NM_000400.3:c.2190+82_2190+83insCCCCCCC , LRG_461t1:c.2190+82_2190+83insCCCCCCC	NP_000391.1:n.2190+82_2190+83insCCCCCCC
XM_011526611.1:c.2112+82_2112+83insCCCCCCC	XP_011524913.1:n.2112+82_2112+83insCCCCCCC
XM_011526611.2:c.2112+82_2112+83insCCCCCCC	XP_011524913.1:n.2112+82_2112+83insCCCCCCC
XM_017026467.1:c.2067+82_2067+83insCCCCCCC	XP_016881956.1:n.2067+82_2067+83insCCCCCCC
XR_001753633.2:n.2237+82_2237+83insCCCCCCC
XR_001753634.2:n.2173+82_2173+83insCCCCCCC
NM_000400.4:c.2190+82_2190+83insCCCCCCC MANE Select	NP_000391.1:n.2190+82_2190+83insCCCCCCC