Canonical Allele Identifier: CA996294674

Gene: ERCC2

Linked Data

• dbSNP Id: rs1971810944
• gnomAD v3: 19-45351985-CAACTTCTCTCACCCT-C
• gnomAD v4: 19-45351985-CAACTTCTCTCACCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45351986_45352000del , CM000681.2:g.45351986_45352000del	GRCh38
NC_000019.9:g.45855244_45855258del , CM000681.1:g.45855244_45855258del	GRCh37
NC_000019.8:g.50547084_50547098del	NCBI36
NG_007067.2:g.23588_23602del , LRG_461:g.23588_23602del

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2399_2413del	ENSP00000375808.4:p.Gln800_Trp805delinsArg
ENST00000682414.1:c.2190+209_2190+223del	ENSP00000507019.1:n.2190+209_2190+223del
ENST00000682508.1:n.2219+209_2219+223del
ENST00000684218.1:c.*1448+209_*1448+223del	ENSP00000507804.1:n.*1448+209_*1448+223del
ENST00000684264.1:n.1746+209_1746+223del
ENST00000684407.1:c.2067+209_2067+223del	ENSP00000507775.1:n.2067+209_2067+223del
ENST00000684458.1:c.*676+209_*676+223del	ENSP00000508260.1:n.*676+209_*676+223del
ENST00000684468.1:n.1902+209_1902+223del
ENST00000391945.10:c.2190+209_2190+223del MANE Select	ENSP00000375809.4:n.2190+209_2190+223del
ENST00000646507.1:n.2287+209_2287+223del
ENST00000391942.6:n.1361+209_1361+223del
ENST00000391944.7:c.1956+209_1956+223del	ENSP00000375808.3:n.1956+209_1956+223del
ENST00000391945.8:c.2190+209_2190+223del	ENSP00000375809.3:n.2190+209_2190+223del
ENST00000588652.5:n.2278+209_2278+223del
NM_000400.3:c.2190+209_2190+223del , LRG_461t1:c.2190+209_2190+223del	NP_000391.1:n.2190+209_2190+223del
XM_011526611.1:c.2112+209_2112+223del	XP_011524913.1:n.2112+209_2112+223del
XM_011526611.2:c.2112+209_2112+223del	XP_011524913.1:n.2112+209_2112+223del
XM_017026467.1:c.2067+209_2067+223del	XP_016881956.1:n.2067+209_2067+223del
XR_001753633.2:n.2237+209_2237+223del
XR_001753634.2:n.2173+209_2173+223del
NM_000400.4:c.2190+209_2190+223del MANE Select	NP_000391.1:n.2190+209_2190+223del