Canonical Allele Identifier: CA2338392903
Community Standard Title: NM_000400.4(ERCC2):c.1238-1492T=
Gene: ERCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45359191A= , CM000681.2:g.45359191A= GRCh38
NC_000019.9:g.45862449A= , CM000681.1:g.45862449A= GRCh37
NC_000019.8:g.50554289A= NCBI36
NG_007067.2:g.16397T= , LRG_461:g.16397T=

Transcript Alleles

HGVS Amino-acid Change
NM_000400.4:c.1238-1492T= MANE Select NP_000391.1:n.1238-1492T=
ENST00000391945.10:c.1238-1492T= MANE Select ENSP00000375809.4:n.1238-1492T=
NM_000400.3:c.1238-1492T= , LRG_461t1:c.1238-1492T= NP_000391.1:n.1238-1492T=
NM_001130867.1:c.1166-279T= NP_001124339.1:n.1166-279T=
NM_001130867.2:c.1166-279T= NP_001124339.1:n.1166-279T=
ENST00000391941.6:c.1166-1492T= ENSP00000375805.2:n.1166-1492T=
ENST00000391942.6:n.409-1492T=
ENST00000391944.7:c.1004-1492T= ENSP00000375808.3:n.1004-1492T=
ENST00000391944.8:c.1238-1492T= ENSP00000375808.4:n.1238-1492T=
ENST00000391945.8:c.1238-1492T= ENSP00000375809.3:n.1238-1492T=
ENST00000485403.6:c.1166-279T= ENSP00000431229.2:n.1166-279T=
ENST00000587376.5:c.361-1492T=
ENST00000587376.6:c.361-1492T=
ENST00000646507.1:n.1335-1492T=
ENST00000682414.1:c.1238-1492T= ENSP00000507019.1:n.1238-1492T=
ENST00000682508.1:n.1267-1492T=
ENST00000684218.1:c.*496-1492T= ENSP00000507804.1:n.*496-1492T=
ENST00000684407.1:c.1115-1492T= ENSP00000507775.1:n.1115-1492T=
ENST00000684458.1:c.1238-1648T= ENSP00000508260.1:n.1238-1648T=
XM_011526611.1:c.1160-1492T= XP_011524913.1:n.1160-1492T=
XM_011526611.2:c.1160-1492T= XP_011524913.1:n.1160-1492T=
XM_017026467.1:c.1115-1492T= XP_016881956.1:n.1115-1492T=
XR_001753633.2:n.1285-1492T=
XR_001753634.2:n.1285-1492T=
XR_935763.1:n.1285-1492T=