Canonical Allele Identifier: CA2735883641
Gene: ERCC2 HGNC NCBI

Linked Data

dbSNP Id: rs774079690

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45363915C>G , CM000681.2:g.45363915C>G GRCh38
NC_000019.9:g.45867173C>G , CM000681.1:g.45867173C>G GRCh37
NC_000019.8:g.50559013C>G NCBI36
NG_007067.2:g.11673G>C , LRG_461:g.11673G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000391944.8:c.950-4G>C ENSP00000375808.4:n.950-4G>C
ENST00000682414.1:c.950-4G>C ENSP00000507019.1:n.950-4G>C
ENST00000682508.1:n.979-4G>C
ENST00000684218.1:c.*208-4G>C ENSP00000507804.1:n.*208-4G>C
ENST00000684407.1:c.827-4G>C ENSP00000507775.1:n.827-4G>C
ENST00000684458.1:c.950-4G>C ENSP00000508260.1:n.950-4G>C
ENST00000391945.10:c.950-4G>C MANE Select ENSP00000375809.4:n.950-4G>C
ENST00000587376.6:c.73-4G>C
ENST00000646507.1:n.1047-4G>C
ENST00000391941.6:c.878-4G>C ENSP00000375805.2:n.878-4G>C
ENST00000391944.7:c.716-4G>C ENSP00000375808.3:n.716-4G>C
ENST00000391945.8:c.950-4G>C ENSP00000375809.3:n.950-4G>C
ENST00000485403.6:c.878-4G>C ENSP00000431229.2:n.878-4G>C
ENST00000587376.5:c.73-4G>C
NM_000400.3:c.950-4G>C , LRG_461t1:c.950-4G>C NP_000391.1:n.950-4G>C
NM_001130867.1:c.878-4G>C NP_001124339.1:n.878-4G>C
XM_011526611.1:c.872-4G>C XP_011524913.1:n.872-4G>C
XR_935763.1:n.997-4G>C
XM_011526611.2:c.872-4G>C XP_011524913.1:n.872-4G>C
XM_017026467.1:c.827-4G>C XP_016881956.1:n.827-4G>C
XR_001753633.2:n.997-4G>C
XR_001753634.2:n.997-4G>C
NM_000400.4:c.950-4G>C MANE Select NP_000391.1:n.950-4G>C
NM_001130867.2:c.878-4G>C NP_001124339.1:n.878-4G>C