Canonical Allele Identifier: CA2338394535
Community Standard Title: NM_000400.4(ERCC2):c.1119-317A=
Gene: ERCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45361959T= , CM000681.2:g.45361959T= GRCh38
NC_000019.9:g.45865217T= , CM000681.1:g.45865217T= GRCh37
NC_000019.8:g.50557057T= NCBI36
NG_007067.2:g.13629A= , LRG_461:g.13629A=

Transcript Alleles

HGVS Amino-acid Change
NM_000400.4:c.1119-317A= MANE Select NP_000391.1:n.1119-317A=
ENST00000391945.10:c.1119-317A= MANE Select ENSP00000375809.4:n.1119-317A=
NM_000400.3:c.1119-317A= , LRG_461t1:c.1119-317A= NP_000391.1:n.1119-317A=
NM_001130867.1:c.1047-317A= NP_001124339.1:n.1047-317A=
NM_001130867.2:c.1047-317A= NP_001124339.1:n.1047-317A=
ENST00000391941.6:c.1047-317A= ENSP00000375805.2:n.1047-317A=
ENST00000391944.7:c.885-317A= ENSP00000375808.3:n.885-317A=
ENST00000391944.8:c.1119-317A= ENSP00000375808.4:n.1119-317A=
ENST00000391945.8:c.1119-317A= ENSP00000375809.3:n.1119-317A=
ENST00000485403.6:c.1047-317A= ENSP00000431229.2:n.1047-317A=
ENST00000587376.5:c.242-317A=
ENST00000587376.6:c.242-317A=
ENST00000646507.1:n.1216-317A=
ENST00000682414.1:c.1119-317A= ENSP00000507019.1:n.1119-317A=
ENST00000682508.1:n.1148-317A=
ENST00000684218.1:c.*377-317A= ENSP00000507804.1:n.*377-317A=
ENST00000684407.1:c.996-317A= ENSP00000507775.1:n.996-317A=
ENST00000684458.1:c.1119-317A= ENSP00000508260.1:n.1119-317A=
XM_011526611.1:c.1041-317A= XP_011524913.1:n.1041-317A=
XM_011526611.2:c.1041-317A= XP_011524913.1:n.1041-317A=
XM_017026467.1:c.996-317A= XP_016881956.1:n.996-317A=
XR_001753633.2:n.1166-317A=
XR_001753634.2:n.1166-317A=
XR_935763.1:n.1166-317A=