Canonical Allele Identifier: CA996294706

Gene: ERCC2

Linked Data

• dbSNP Id: rs1971812463
• gnomAD v3: 19-45352003-CGTGCCTGGGCCACCTGCT-C
• gnomAD v4: 19-45352003-CGTGCCTGGGCCACCTGCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352005_45352022del , CM000681.2:g.45352005_45352022del	GRCh38
NC_000019.9:g.45855263_45855280del , CM000681.1:g.45855263_45855280del	GRCh37
NC_000019.8:g.50547103_50547120del	NCBI36
NG_007067.2:g.23567_23584del , LRG_461:g.23567_23584del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2378_2395del	ENSP00000375808.4:p.Gln793_Ala798del
ENST00000682414.1:c.2190+188_2190+205del	ENSP00000507019.1:n.2190+188_2190+205del
ENST00000682508.1:n.2219+188_2219+205del
ENST00000684218.1:c.*1448+188_*1448+205del	ENSP00000507804.1:n.*1448+188_*1448+205del
ENST00000684264.1:n.1746+188_1746+205del
ENST00000684407.1:c.2067+188_2067+205del	ENSP00000507775.1:n.2067+188_2067+205del
ENST00000684458.1:c.*676+188_*676+205del	ENSP00000508260.1:n.*676+188_*676+205del
ENST00000684468.1:n.1902+188_1902+205del
ENST00000391945.10:c.2190+188_2190+205del MANE Select	ENSP00000375809.4:n.2190+188_2190+205del
ENST00000646507.1:n.2287+188_2287+205del
ENST00000391942.6:n.1361+188_1361+205del
ENST00000391944.7:c.1956+188_1956+205del	ENSP00000375808.3:n.1956+188_1956+205del
ENST00000391945.8:c.2190+188_2190+205del	ENSP00000375809.3:n.2190+188_2190+205del
ENST00000588652.5:n.2278+188_2278+205del
NM_000400.3:c.2190+188_2190+205del , LRG_461t1:c.2190+188_2190+205del	NP_000391.1:n.2190+188_2190+205del
XM_011526611.1:c.2112+188_2112+205del	XP_011524913.1:n.2112+188_2112+205del
XM_011526611.2:c.2112+188_2112+205del	XP_011524913.1:n.2112+188_2112+205del
XM_017026467.1:c.2067+188_2067+205del	XP_016881956.1:n.2067+188_2067+205del
XR_001753633.2:n.2237+188_2237+205del
XR_001753634.2:n.2173+188_2173+205del
NM_000400.4:c.2190+188_2190+205del MANE Select	NP_000391.1:n.2190+188_2190+205del