Canonical Allele Identifier: CA2338395790
Gene: ERCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45364163G= , CM000681.2:g.45364163G= GRCh38
NC_000019.9:g.45867421G= , CM000681.1:g.45867421G= GRCh37
NC_000019.8:g.50559261G= NCBI36
NG_007067.2:g.11425C= , LRG_461:g.11425C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000391944.8:c.816-44C= ENSP00000375808.4:n.816-44C=
ENST00000682414.1:c.816-44C= ENSP00000507019.1:n.816-44C=
ENST00000682508.1:n.845-44C=
ENST00000684218.1:c.*74-44C= ENSP00000507804.1:n.*74-44C=
ENST00000684407.1:c.693-44C= ENSP00000507775.1:n.693-44C=
ENST00000684458.1:c.816-44C= ENSP00000508260.1:n.816-44C=
ENST00000391945.10:c.816-44C= MANE Select ENSP00000375809.4:n.816-44C=
ENST00000586131.6:c.744-44C= ENSP00000464887.1:n.744-44C=
ENST00000646507.1:n.913-44C=
ENST00000391941.6:c.744-44C= ENSP00000375805.2:n.744-44C=
ENST00000391944.7:c.582-44C= ENSP00000375808.3:n.582-44C=
ENST00000391945.8:c.816-44C= ENSP00000375809.3:n.816-44C=
ENST00000485403.6:c.744-44C= ENSP00000431229.2:n.744-44C=
ENST00000586131.5:c.744-44C= ENSP00000464887.1:n.744-44C=
ENST00000586737.5:n.453-44C=
ENST00000591309.5:c.*74-44C= ENSP00000465207.1:n.*74-44C=
NM_000400.3:c.816-44C= , LRG_461t1:c.816-44C= NP_000391.1:n.816-44C=
NM_001130867.1:c.744-44C= NP_001124339.1:n.744-44C=
XM_011526611.1:c.738-44C= XP_011524913.1:n.738-44C=
XR_935763.1:n.863-44C=
XM_011526611.2:c.738-44C= XP_011524913.1:n.738-44C=
XM_017026467.1:c.693-44C= XP_016881956.1:n.693-44C=
XR_001753633.2:n.863-44C=
XR_001753634.2:n.863-44C=
NM_000400.4:c.816-44C= MANE Select NP_000391.1:n.816-44C=
NM_001130867.2:c.744-44C= NP_001124339.1:n.744-44C=