Canonical Allele Identifier: CA2585785480

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352188-GGAGGGGGACGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352189_45352199del , CM000681.2:g.45352189_45352199del	GRCh38
NC_000019.9:g.45855447_45855457del , CM000681.1:g.45855447_45855457del	GRCh37
NC_000019.8:g.50547287_50547297del	NCBI36
NG_007067.2:g.23389_23399del , LRG_461:g.23389_23399del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2200_2210del	ENSP00000375808.4:p.Ala734ProfsTer?
ENST00000682414.1:c.2190+10_2190+20del	ENSP00000507019.1:n.2190+10_2190+20del
ENST00000682508.1:n.2219+10_2219+20del
ENST00000684218.1:c.*1448+10_*1448+20del	ENSP00000507804.1:n.*1448+10_*1448+20del
ENST00000684264.1:n.1746+10_1746+20del
ENST00000684407.1:c.2067+10_2067+20del	ENSP00000507775.1:n.2067+10_2067+20del
ENST00000684458.1:c.*676+10_*676+20del	ENSP00000508260.1:n.*676+10_*676+20del
ENST00000684468.1:n.1902+10_1902+20del
ENST00000391945.10:c.2190+10_2190+20del MANE Select	ENSP00000375809.4:n.2190+10_2190+20del
ENST00000646507.1:n.2287+10_2287+20del
ENST00000391942.6:n.1361+10_1361+20del
ENST00000391944.7:c.1956+10_1956+20del	ENSP00000375808.3:n.1956+10_1956+20del
ENST00000391945.8:c.2190+10_2190+20del	ENSP00000375809.3:n.2190+10_2190+20del
ENST00000588652.5:n.2278+10_2278+20del
NM_000400.3:c.2190+10_2190+20del , LRG_461t1:c.2190+10_2190+20del	NP_000391.1:n.2190+10_2190+20del
XM_011526611.1:c.2112+10_2112+20del	XP_011524913.1:n.2112+10_2112+20del
XM_011526611.2:c.2112+10_2112+20del	XP_011524913.1:n.2112+10_2112+20del
XM_017026467.1:c.2067+10_2067+20del	XP_016881956.1:n.2067+10_2067+20del
XR_001753633.2:n.2237+10_2237+20del
XR_001753634.2:n.2173+10_2173+20del
NM_000400.4:c.2190+10_2190+20del MANE Select	NP_000391.1:n.2190+10_2190+20del