Canonical Allele Identifier: CA882714881
Gene: ERCC2 HGNC NCBI

Linked Data

dbSNP Id: rs1306691467

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352153T>G , CM000681.2:g.45352153T>G GRCh38
NC_000019.9:g.45855411T>G , CM000681.1:g.45855411T>G GRCh37
NC_000019.8:g.50547251T>G NCBI36
NG_007067.2:g.23435A>C , LRG_461:g.23435A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000391944.8:c.2246A>C ENSP00000375808.4:p.Lys749Thr
ENST00000682414.1:c.2190+56A>C ENSP00000507019.1:n.2190+56A>C
ENST00000682508.1:n.2219+56A>C
ENST00000684218.1:c.*1448+56A>C ENSP00000507804.1:n.*1448+56A>C
ENST00000684264.1:n.1746+56A>C
ENST00000684407.1:c.2067+56A>C ENSP00000507775.1:n.2067+56A>C
ENST00000684458.1:c.*676+56A>C ENSP00000508260.1:n.*676+56A>C
ENST00000684468.1:n.1902+56A>C
ENST00000391945.10:c.2190+56A>C MANE Select ENSP00000375809.4:n.2190+56A>C
ENST00000646507.1:n.2287+56A>C
ENST00000391942.6:n.1361+56A>C
ENST00000391944.7:c.1956+56A>C ENSP00000375808.3:n.1956+56A>C
ENST00000391945.8:c.2190+56A>C ENSP00000375809.3:n.2190+56A>C
ENST00000588652.5:n.2278+56A>C
NM_000400.3:c.2190+56A>C , LRG_461t1:c.2190+56A>C NP_000391.1:n.2190+56A>C
XM_011526611.1:c.2112+56A>C XP_011524913.1:n.2112+56A>C
XM_011526611.2:c.2112+56A>C XP_011524913.1:n.2112+56A>C
XM_017026467.1:c.2067+56A>C XP_016881956.1:n.2067+56A>C
XR_001753633.2:n.2237+56A>C
XR_001753634.2:n.2173+56A>C
NM_000400.4:c.2190+56A>C MANE Select NP_000391.1:n.2190+56A>C