Canonical Allele Identifier: CA2338395608
Gene: ERCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45363900C= , CM000681.2:g.45363900C= GRCh38
NC_000019.9:g.45867158C= , CM000681.1:g.45867158C= GRCh37
NC_000019.8:g.50558998C= NCBI36
NG_007067.2:g.11688G= , LRG_461:g.11688G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000391944.8:c.961G= ENSP00000375808.4:p.Gly321=
ENST00000682414.1:c.961G= ENSP00000507019.1:p.Gly321=
ENST00000682508.1:n.990G=
ENST00000684218.1:c.*219G= ENSP00000507804.1:n.*219G=
ENST00000684407.1:c.838G= ENSP00000507775.1:p.Gly280=
ENST00000684458.1:c.961G= ENSP00000508260.1:p.Gly321=
ENST00000391945.10:c.961G= MANE Select ENSP00000375809.4:p.Gly321=
ENST00000587376.6:c.84G=
ENST00000646507.1:n.1058G=
ENST00000391941.6:c.889G= ENSP00000375805.2:p.Gly297=
ENST00000391944.7:c.727G= ENSP00000375808.3:p.Gly243=
ENST00000391945.8:c.961G= ENSP00000375809.3:p.Gly321=
ENST00000485403.6:c.889G= ENSP00000431229.2:p.Gly297=
ENST00000587376.5:c.84G=
NM_000400.3:c.961G= , LRG_461t1:c.961G= NP_000391.1:p.Gly321=
NM_001130867.1:c.889G= NP_001124339.1:p.Gly297=
XM_011526611.1:c.883G= XP_011524913.1:p.Gly295=
XR_935763.1:n.1008G=
XM_011526611.2:c.883G= XP_011524913.1:p.Gly295=
XM_017026467.1:c.838G= XP_016881956.1:p.Gly280=
XR_001753633.2:n.1008G=
XR_001753634.2:n.1008G=
NM_000400.4:c.961G= MANE Select NP_000391.1:p.Gly321=
NM_001130867.2:c.889G= NP_001124339.1:p.Gly297=