Canonical Allele Identifier: CA2338388607
Gene: ERCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352133T= , CM000681.2:g.45352133T= GRCh38
NC_000019.9:g.45855391T= , CM000681.1:g.45855391T= GRCh37
NC_000019.8:g.50547231T= NCBI36
NG_007067.2:g.23455A= , LRG_461:g.23455A=

Transcript Alleles

HGVS Amino-acid change
ENST00000391944.8:c.2266A= ENSP00000375808.4:p.Thr756=
ENST00000682414.1:c.2190+76A= ENSP00000507019.1:n.2190+76A=
ENST00000682508.1:n.2219+76A=
ENST00000684218.1:c.*1448+76A= ENSP00000507804.1:n.*1448+76A=
ENST00000684264.1:n.1746+76A=
ENST00000684407.1:c.2067+76A= ENSP00000507775.1:n.2067+76A=
ENST00000684458.1:c.*676+76A= ENSP00000508260.1:n.*676+76A=
ENST00000684468.1:n.1902+76A=
ENST00000391945.10:c.2190+76A= MANE Select ENSP00000375809.4:n.2190+76A=
ENST00000646507.1:n.2287+76A=
ENST00000391942.6:n.1361+76A=
ENST00000391944.7:c.1956+76A= ENSP00000375808.3:n.1956+76A=
ENST00000391945.8:c.2190+76A= ENSP00000375809.3:n.2190+76A=
ENST00000588652.5:n.2278+76A=
NM_000400.3:c.2190+76A= , LRG_461t1:c.2190+76A= NP_000391.1:n.2190+76A=
XM_011526611.1:c.2112+76A= XP_011524913.1:n.2112+76A=
XM_011526611.2:c.2112+76A= XP_011524913.1:n.2112+76A=
XM_017026467.1:c.2067+76A= XP_016881956.1:n.2067+76A=
XR_001753633.2:n.2237+76A=
XR_001753634.2:n.2173+76A=
NM_000400.4:c.2190+76A= MANE Select NP_000391.1:n.2190+76A=