Canonical Allele Identifier: CA882714877
Gene: ERCC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352138A>G , CM000681.2:g.45352138A>G GRCh38
NC_000019.9:g.45855396A>G , CM000681.1:g.45855396A>G GRCh37
NC_000019.8:g.50547236A>G NCBI36
NG_007067.2:g.23450T>C , LRG_461:g.23450T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000391945.10:c.2190+71T>C MANE Select ENSP00000375809.4:p.=
ENST00000646507.1:n.2287+71T>C
ENST00000391942.6:n.1361+71T>C
ENST00000391944.7:c.1956+71T>C ENSP00000375808.3:p.=
ENST00000391945.8:c.2190+71T>C ENSP00000375809.3:p.=
ENST00000588652.5:n.2278+71T>C
NM_000400.3:c.2190+71T>C , LRG_461t1:c.2190+71T>C NP_000391.1:p.=
XM_011526611.1:c.2112+71T>C XP_011524913.1:p.=
XM_011526611.2:c.2112+71T>C XP_011524913.1:p.=
XM_017026467.1:c.2067+71T>C XP_016881956.1:p.=
XR_001753633.2:n.2237+71T>C
XR_001753634.2:n.2173+71T>C
NM_000400.4:c.2190+71T>C MANE Select NP_000391.1:p.=