Canonical Allele Identifier: CA9512837
Gene: ERCC2 HGNC NCBI

Linked Data

dbSNP Id: rs751161292

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352158G>A , CM000681.2:g.45352158G>A GRCh38
NC_000019.9:g.45855416G>A , CM000681.1:g.45855416G>A GRCh37
NC_000019.8:g.50547256G>A NCBI36
NG_007067.2:g.23430C>T , LRG_461:g.23430C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000391944.8:c.2241C>T ENSP00000375808.4:p.Ser747=
ENST00000682414.1:c.2190+51C>T ENSP00000507019.1:n.2190+51C>T
ENST00000682508.1:n.2219+51C>T
ENST00000684218.1:c.*1448+51C>T ENSP00000507804.1:n.*1448+51C>T
ENST00000684264.1:n.1746+51C>T
ENST00000684407.1:c.2067+51C>T ENSP00000507775.1:n.2067+51C>T
ENST00000684458.1:c.*676+51C>T ENSP00000508260.1:n.*676+51C>T
ENST00000684468.1:n.1902+51C>T
ENST00000391945.10:c.2190+51C>T MANE Select ENSP00000375809.4:n.2190+51C>T
ENST00000646507.1:n.2287+51C>T
ENST00000391942.6:n.1361+51C>T
ENST00000391944.7:c.1956+51C>T ENSP00000375808.3:n.1956+51C>T
ENST00000391945.8:c.2190+51C>T ENSP00000375809.3:n.2190+51C>T
ENST00000588652.5:n.2278+51C>T
NM_000400.3:c.2190+51C>T , LRG_461t1:c.2190+51C>T NP_000391.1:n.2190+51C>T
XM_011526611.1:c.2112+51C>T XP_011524913.1:n.2112+51C>T
XM_011526611.2:c.2112+51C>T XP_011524913.1:n.2112+51C>T
XM_017026467.1:c.2067+51C>T XP_016881956.1:n.2067+51C>T
XR_001753633.2:n.2237+51C>T
XR_001753634.2:n.2173+51C>T
NM_000400.4:c.2190+51C>T MANE Select NP_000391.1:n.2190+51C>T