Canonical Allele Identifier: CA2338392954
Community Standard Title: NM_000400.4(ERCC2):c.1238-1558G=
Gene: ERCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45359257C= , CM000681.2:g.45359257C= GRCh38
NC_000019.9:g.45862515C= , CM000681.1:g.45862515C= GRCh37
NC_000019.8:g.50554355C= NCBI36
NG_007067.2:g.16331G= , LRG_461:g.16331G=

Transcript Alleles

HGVS Amino-acid Change
NM_000400.4:c.1238-1558G= MANE Select NP_000391.1:n.1238-1558G=
ENST00000391945.10:c.1238-1558G= MANE Select ENSP00000375809.4:n.1238-1558G=
NM_000400.3:c.1238-1558G= , LRG_461t1:c.1238-1558G= NP_000391.1:n.1238-1558G=
NM_001130867.1:c.1166-345G= NP_001124339.1:n.1166-345G=
NM_001130867.2:c.1166-345G= NP_001124339.1:n.1166-345G=
ENST00000391941.6:c.1166-1558G= ENSP00000375805.2:n.1166-1558G=
ENST00000391942.6:n.409-1558G=
ENST00000391944.7:c.1004-1558G= ENSP00000375808.3:n.1004-1558G=
ENST00000391944.8:c.1238-1558G= ENSP00000375808.4:n.1238-1558G=
ENST00000391945.8:c.1238-1558G= ENSP00000375809.3:n.1238-1558G=
ENST00000485403.6:c.1166-345G= ENSP00000431229.2:n.1166-345G=
ENST00000587376.5:c.361-1558G=
ENST00000587376.6:c.361-1558G=
ENST00000646507.1:n.1335-1558G=
ENST00000682414.1:c.1238-1558G= ENSP00000507019.1:n.1238-1558G=
ENST00000682508.1:n.1267-1558G=
ENST00000684218.1:c.*496-1558G= ENSP00000507804.1:n.*496-1558G=
ENST00000684407.1:c.1115-1558G= ENSP00000507775.1:n.1115-1558G=
ENST00000684458.1:c.1238-1714G= ENSP00000508260.1:n.1238-1714G=
XM_011526611.1:c.1160-1558G= XP_011524913.1:n.1160-1558G=
XM_011526611.2:c.1160-1558G= XP_011524913.1:n.1160-1558G=
XM_017026467.1:c.1115-1558G= XP_016881956.1:n.1115-1558G=
XR_001753633.2:n.1285-1558G=
XR_001753634.2:n.1285-1558G=
XR_935763.1:n.1285-1558G=