Canonical Allele Identifier: CA308953181
Gene: ERCC2 HGNC NCBI

Linked Data

dbSNP Id: rs1011501944

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45353593C>G , CM000681.2:g.45353593C>G GRCh38
NC_000019.9:g.45856851C>G , CM000681.1:g.45856851C>G GRCh37
NC_000019.8:g.50548691C>G NCBI36
NG_007067.2:g.21995G>C , LRG_461:g.21995G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000391944.8:c.1666-259G>C ENSP00000375808.4:n.1666-259G>C
ENST00000682414.1:c.1666-259G>C ENSP00000507019.1:n.1666-259G>C
ENST00000682508.1:n.1695-259G>C
ENST00000684218.1:c.*924-259G>C ENSP00000507804.1:n.*924-259G>C
ENST00000684264.1:n.1222-259G>C
ENST00000684407.1:c.1543-259G>C ENSP00000507775.1:n.1543-259G>C
ENST00000684458.1:c.*152-259G>C ENSP00000508260.1:n.*152-259G>C
ENST00000684468.1:n.1378-259G>C
ENST00000391945.10:c.1666-259G>C MANE Select ENSP00000375809.4:n.1666-259G>C
ENST00000587376.6:c.725-259G>C
ENST00000646507.1:n.1763-259G>C
ENST00000391941.6:c.1594-259G>C ENSP00000375805.2:n.1594-259G>C
ENST00000391942.6:n.837-259G>C
ENST00000391944.7:c.1432-259G>C ENSP00000375808.3:n.1432-259G>C
ENST00000391945.8:c.1666-259G>C ENSP00000375809.3:n.1666-259G>C
ENST00000587376.5:c.725-259G>C
ENST00000588652.5:n.1754-259G>C
NM_000400.3:c.1666-259G>C , LRG_461t1:c.1666-259G>C NP_000391.1:n.1666-259G>C
XM_011526611.1:c.1588-259G>C XP_011524913.1:n.1588-259G>C
XR_935763.1:n.1649-259G>C
XM_011526611.2:c.1588-259G>C XP_011524913.1:n.1588-259G>C
XM_017026467.1:c.1543-259G>C XP_016881956.1:n.1543-259G>C
XR_001753633.2:n.1713-259G>C
XR_001753634.2:n.1649-259G>C
NM_000400.4:c.1666-259G>C MANE Select NP_000391.1:n.1666-259G>C