Canonical Allele Identifier: CA2338388897
Gene: ERCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352562C= , CM000681.2:g.45352562C= GRCh38
NC_000019.9:g.45855820C= , CM000681.1:g.45855820C= GRCh37
NC_000019.8:g.50547660C= NCBI36
NG_007067.2:g.23026G= , LRG_461:g.23026G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000391944.8:c.1990G= ENSP00000375808.4:p.Val664=
ENST00000682414.1:c.1990G= ENSP00000507019.1:p.Val664=
ENST00000682508.1:n.2019G=
ENST00000684218.1:c.*1248G= ENSP00000507804.1:n.*1248G=
ENST00000684264.1:n.1546G=
ENST00000684407.1:c.1867G= ENSP00000507775.1:p.Val623=
ENST00000684458.1:c.*476G= ENSP00000508260.1:n.*476G=
ENST00000684468.1:n.1702G=
ENST00000391945.10:c.1990G= MANE Select ENSP00000375809.4:p.Val664=
ENST00000646507.1:n.2087G=
ENST00000391941.6:c.1918G= ENSP00000375805.2:p.Val640=
ENST00000391942.6:n.1161G=
ENST00000391944.7:c.1756G= ENSP00000375808.3:p.Val586=
ENST00000391945.8:c.1990G= ENSP00000375809.3:p.Val664=
ENST00000588652.5:n.2078G=
NM_000400.3:c.1990G= , LRG_461t1:c.1990G= NP_000391.1:p.Val664=
XM_011526611.1:c.1912G= XP_011524913.1:p.Val638=
XM_011526611.2:c.1912G= XP_011524913.1:p.Val638=
XM_017026467.1:c.1867G= XP_016881956.1:p.Val623=
XR_001753633.2:n.2037G=
XR_001753634.2:n.1973G=
NM_000400.4:c.1990G= MANE Select NP_000391.1:p.Val664=