Canonical Allele Identifier: CA2338388822
Gene: ERCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352432C= , CM000681.2:g.45352432C= GRCh38
NC_000019.9:g.45855690C= , CM000681.1:g.45855690C= GRCh37
NC_000019.8:g.50547530C= NCBI36
NG_007067.2:g.23156G= , LRG_461:g.23156G=

Transcript Alleles

HGVS Amino-acid change
ENST00000391944.8:c.2046+74G= ENSP00000375808.4:n.2046+74G=
ENST00000682414.1:c.2046+74G= ENSP00000507019.1:n.2046+74G=
ENST00000682508.1:n.2075+74G=
ENST00000684218.1:c.*1304+74G= ENSP00000507804.1:n.*1304+74G=
ENST00000684264.1:n.1602+74G=
ENST00000684407.1:c.1923+74G= ENSP00000507775.1:n.1923+74G=
ENST00000684458.1:c.*532+74G= ENSP00000508260.1:n.*532+74G=
ENST00000684468.1:n.1758+74G=
ENST00000391945.10:c.2046+74G= MANE Select ENSP00000375809.4:n.2046+74G=
ENST00000646507.1:n.2143+74G=
ENST00000391941.6:c.1974+74G= ENSP00000375805.2:n.1974+74G=
ENST00000391942.6:n.1217+74G=
ENST00000391944.7:c.1812+74G= ENSP00000375808.3:n.1812+74G=
ENST00000391945.8:c.2046+74G= ENSP00000375809.3:n.2046+74G=
ENST00000588652.5:n.2134+74G=
NM_000400.3:c.2046+74G= , LRG_461t1:c.2046+74G= NP_000391.1:n.2046+74G=
XM_011526611.1:c.1968+74G= XP_011524913.1:n.1968+74G=
XM_011526611.2:c.1968+74G= XP_011524913.1:n.1968+74G=
XM_017026467.1:c.1923+74G= XP_016881956.1:n.1923+74G=
XR_001753633.2:n.2093+74G=
XR_001753634.2:n.2029+74G=
NM_000400.4:c.2046+74G= MANE Select NP_000391.1:n.2046+74G=