Canonical Allele Identifier: CA633340412
Gene: ERCC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352149G>A , CM000681.2:g.45352149G>A GRCh38
NC_000019.9:g.45855407G>A , CM000681.1:g.45855407G>A GRCh37
NC_000019.8:g.50547247G>A NCBI36
NG_007067.2:g.23439C>T , LRG_461:g.23439C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000391945.10:c.2190+60C>T MANE Select ENSP00000375809.4:p.=
ENST00000646507.1:n.2287+60C>T
ENST00000391942.6:n.1361+60C>T
ENST00000391944.7:c.1956+60C>T ENSP00000375808.3:p.=
ENST00000391945.8:c.2190+60C>T ENSP00000375809.3:p.=
ENST00000588652.5:n.2278+60C>T
NM_000400.3:c.2190+60C>T , LRG_461t1:c.2190+60C>T NP_000391.1:p.=
XM_011526611.1:c.2112+60C>T XP_011524913.1:p.=
XM_011526611.2:c.2112+60C>T XP_011524913.1:p.=
XM_017026467.1:c.2067+60C>T XP_016881956.1:p.=
XR_001753633.2:n.2237+60C>T
XR_001753634.2:n.2173+60C>T
NM_000400.4:c.2190+60C>T MANE Select NP_000391.1:p.=