Canonical Allele Identifier: CA2338388896
Gene: ERCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352561A= , CM000681.2:g.45352561A= GRCh38
NC_000019.9:g.45855819A= , CM000681.1:g.45855819A= GRCh37
NC_000019.8:g.50547659A= NCBI36
NG_007067.2:g.23027T= , LRG_461:g.23027T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000391944.8:c.1991T= ENSP00000375808.4:p.Val664=
ENST00000682414.1:c.1991T= ENSP00000507019.1:p.Val664=
ENST00000682508.1:n.2020T=
ENST00000684218.1:c.*1249T= ENSP00000507804.1:n.*1249T=
ENST00000684264.1:n.1547T=
ENST00000684407.1:c.1868T= ENSP00000507775.1:p.Val623=
ENST00000684458.1:c.*477T= ENSP00000508260.1:n.*477T=
ENST00000684468.1:n.1703T=
ENST00000391945.10:c.1991T= MANE Select ENSP00000375809.4:p.Val664=
ENST00000646507.1:n.2088T=
ENST00000391941.6:c.1919T= ENSP00000375805.2:p.Val640=
ENST00000391942.6:n.1162T=
ENST00000391944.7:c.1757T= ENSP00000375808.3:p.Val586=
ENST00000391945.8:c.1991T= ENSP00000375809.3:p.Val664=
ENST00000588652.5:n.2079T=
NM_000400.3:c.1991T= , LRG_461t1:c.1991T= NP_000391.1:p.Val664=
XM_011526611.1:c.1913T= XP_011524913.1:p.Val638=
XM_011526611.2:c.1913T= XP_011524913.1:p.Val638=
XM_017026467.1:c.1868T= XP_016881956.1:p.Val623=
XR_001753633.2:n.2038T=
XR_001753634.2:n.1974T=
NM_000400.4:c.1991T= MANE Select NP_000391.1:p.Val664=