Canonical Allele Identifier: CA2585785388

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352091-CTTTGCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352092_45352097del , CM000681.2:g.45352092_45352097del	GRCh38
NC_000019.9:g.45855350_45855355del , CM000681.1:g.45855350_45855355del	GRCh37
NC_000019.8:g.50547190_50547195del	NCBI36
NG_007067.2:g.23491_23496del , LRG_461:g.23491_23496del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2302_2307del	ENSP00000375808.4:p.Ser768_Lys769del
ENST00000682414.1:c.2190+112_2190+117del	ENSP00000507019.1:n.2190+112_2190+117del
ENST00000682508.1:n.2219+112_2219+117del
ENST00000684218.1:c.*1448+112_*1448+117del	ENSP00000507804.1:n.*1448+112_*1448+117del
ENST00000684264.1:n.1746+112_1746+117del
ENST00000684407.1:c.2067+112_2067+117del	ENSP00000507775.1:n.2067+112_2067+117del
ENST00000684458.1:c.*676+112_*676+117del	ENSP00000508260.1:n.*676+112_*676+117del
ENST00000684468.1:n.1902+112_1902+117del
ENST00000391945.10:c.2190+112_2190+117del MANE Select	ENSP00000375809.4:n.2190+112_2190+117del
ENST00000646507.1:n.2287+112_2287+117del
ENST00000391942.6:n.1361+112_1361+117del
ENST00000391944.7:c.1956+112_1956+117del	ENSP00000375808.3:n.1956+112_1956+117del
ENST00000391945.8:c.2190+112_2190+117del	ENSP00000375809.3:n.2190+112_2190+117del
ENST00000588652.5:n.2278+112_2278+117del
NM_000400.3:c.2190+112_2190+117del , LRG_461t1:c.2190+112_2190+117del	NP_000391.1:n.2190+112_2190+117del
XM_011526611.1:c.2112+112_2112+117del	XP_011524913.1:n.2112+112_2112+117del
XM_011526611.2:c.2112+112_2112+117del	XP_011524913.1:n.2112+112_2112+117del
XM_017026467.1:c.2067+112_2067+117del	XP_016881956.1:n.2067+112_2067+117del
XR_001753633.2:n.2237+112_2237+117del
XR_001753634.2:n.2173+112_2173+117del
NM_000400.4:c.2190+112_2190+117del MANE Select	NP_000391.1:n.2190+112_2190+117del