Canonical Allele Identifier: CA406361026
Gene: ERCC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352237A>T , CM000681.2:g.45352237A>T GRCh38
NC_000019.9:g.45855495A>T , CM000681.1:g.45855495A>T GRCh37
NC_000019.8:g.50547335A>T NCBI36
NG_007067.2:g.23351T>A , LRG_461:g.23351T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000391944.8:c.2162T>A ENSP00000375808.4:p.Leu721Gln
ENST00000682414.1:c.2162T>A ENSP00000507019.1:p.Leu721Gln
ENST00000682508.1:n.2191T>A
ENST00000684218.1:c.*1420T>A ENSP00000507804.1:n.*1420T>A
ENST00000684264.1:n.1718T>A
ENST00000684407.1:c.2039T>A ENSP00000507775.1:p.Leu680Gln
ENST00000684458.1:c.*648T>A ENSP00000508260.1:n.*648T>A
ENST00000684468.1:n.1874T>A
ENST00000391945.10:c.2162T>A MANE Select ENSP00000375809.4:p.Leu721Gln
ENST00000646507.1:n.2259T>A
ENST00000391941.6:c.2090T>A ENSP00000375805.2:p.Leu697Gln
ENST00000391942.6:n.1333T>A
ENST00000391944.7:c.1928T>A ENSP00000375808.3:p.Leu643Gln
ENST00000391945.8:c.2162T>A ENSP00000375809.3:p.Leu721Gln
ENST00000588652.5:n.2250T>A
NM_000400.3:c.2162T>A , LRG_461t1:c.2162T>A NP_000391.1:p.Leu721Gln
XM_011526611.1:c.2084T>A XP_011524913.1:p.Leu695Gln
XM_011526611.2:c.2084T>A XP_011524913.1:p.Leu695Gln
XM_017026467.1:c.2039T>A XP_016881956.1:p.Leu680Gln
XR_001753633.2:n.2209T>A
XR_001753634.2:n.2145T>A
NM_000400.4:c.2162T>A MANE Select NP_000391.1:p.Leu721Gln