Canonical Allele Identifier: CA2338388246
Gene: ERCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45351715G= , CM000681.2:g.45351715G= GRCh38
NC_000019.9:g.45854973G= , CM000681.1:g.45854973G= GRCh37
NC_000019.8:g.50546813G= NCBI36
NG_007067.2:g.23873C= , LRG_461:g.23873C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000391944.8:c.*194C= ENSP00000375808.4:n.*194C=
ENST00000682414.1:c.2197C= ENSP00000507019.1:p.Gln733=
ENST00000682508.1:n.2226C=
ENST00000684218.1:c.*1455C= ENSP00000507804.1:n.*1455C=
ENST00000684264.1:n.1753C=
ENST00000684407.1:c.2074C= ENSP00000507775.1:p.Gln692=
ENST00000684458.1:c.*683C= ENSP00000508260.1:n.*683C=
ENST00000684468.1:n.1909C=
ENST00000391945.10:c.2197C= MANE Select ENSP00000375809.4:p.Gln733=
ENST00000646507.1:n.2294C=
ENST00000391942.6:n.1368C=
ENST00000391944.7:c.1963C= ENSP00000375808.3:p.Gln655=
ENST00000391945.8:c.2197C= ENSP00000375809.3:p.Gln733=
ENST00000588652.5:n.2285C=
NM_000400.3:c.2197C= , LRG_461t1:c.2197C= NP_000391.1:p.Gln733=
XM_011526611.1:c.2119C= XP_011524913.1:p.Gln707=
XM_011526611.2:c.2119C= XP_011524913.1:p.Gln707=
XM_017026467.1:c.2074C= XP_016881956.1:p.Gln692=
XR_001753633.2:n.2244C=
XR_001753634.2:n.2180C=
NM_000400.4:c.2197C= MANE Select NP_000391.1:p.Gln733=