Canonical Allele Identifier: CA882714879
Gene: ERCC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352146A>C , CM000681.2:g.45352146A>C GRCh38
NC_000019.9:g.45855404A>C , CM000681.1:g.45855404A>C GRCh37
NC_000019.8:g.50547244A>C NCBI36
NG_007067.2:g.23442T>G , LRG_461:g.23442T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000391945.10:c.2190+63T>G MANE Select ENSP00000375809.4:p.=
ENST00000646507.1:n.2287+63T>G
ENST00000391942.6:n.1361+63T>G
ENST00000391944.7:c.1956+63T>G ENSP00000375808.3:p.=
ENST00000391945.8:c.2190+63T>G ENSP00000375809.3:p.=
ENST00000588652.5:n.2278+63T>G
NM_000400.3:c.2190+63T>G , LRG_461t1:c.2190+63T>G NP_000391.1:p.=
XM_011526611.1:c.2112+63T>G XP_011524913.1:p.=
XM_011526611.2:c.2112+63T>G XP_011524913.1:p.=
XM_017026467.1:c.2067+63T>G XP_016881956.1:p.=
XR_001753633.2:n.2237+63T>G
XR_001753634.2:n.2173+63T>G
NM_000400.4:c.2190+63T>G MANE Select NP_000391.1:p.=