Canonical Allele Identifier: CA996296179
Gene: ERCC2 HGNC NCBI

Linked Data

dbSNP Id: rs1971906926

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45353609_45353610dup , CM000681.2:g.45353609_45353610dup GRCh38
NC_000019.9:g.45856867_45856868dup , CM000681.1:g.45856867_45856868dup GRCh37
NC_000019.8:g.50548707_50548708dup NCBI36
NG_007067.2:g.21980_21981dup , LRG_461:g.21980_21981dup

Transcript Alleles

HGVS Amino-acid change
ENST00000391944.8:c.1666-274_1666-273dup ENSP00000375808.4:n.1666-274_1666-273dup
ENST00000682414.1:c.1666-274_1666-273dup ENSP00000507019.1:n.1666-274_1666-273dup
ENST00000682508.1:n.1695-274_1695-273dup
ENST00000684218.1:c.*924-274_*924-273dup ENSP00000507804.1:n.*924-274_*924-273dup
ENST00000684264.1:n.1222-274_1222-273dup
ENST00000684407.1:c.1543-274_1543-273dup ENSP00000507775.1:n.1543-274_1543-273dup
ENST00000684458.1:c.*152-274_*152-273dup ENSP00000508260.1:n.*152-274_*152-273dup
ENST00000684468.1:n.1378-274_1378-273dup
ENST00000391945.10:c.1666-274_1666-273dup MANE Select ENSP00000375809.4:n.1666-274_1666-273dup
ENST00000587376.6:c.725-274_725-273dup
ENST00000646507.1:n.1763-274_1763-273dup
ENST00000391941.6:c.1594-274_1594-273dup ENSP00000375805.2:n.1594-274_1594-273dup
ENST00000391942.6:n.837-274_837-273dup
ENST00000391944.7:c.1432-274_1432-273dup ENSP00000375808.3:n.1432-274_1432-273dup
ENST00000391945.8:c.1666-274_1666-273dup ENSP00000375809.3:n.1666-274_1666-273dup
ENST00000587376.5:c.725-274_725-273dup
ENST00000588652.5:n.1754-274_1754-273dup
NM_000400.3:c.1666-274_1666-273dup , LRG_461t1:c.1666-274_1666-273dup NP_000391.1:n.1666-274_1666-273dup
XM_011526611.1:c.1588-274_1588-273dup XP_011524913.1:n.1588-274_1588-273dup
XR_935763.1:n.1649-274_1649-273dup
XM_011526611.2:c.1588-274_1588-273dup XP_011524913.1:n.1588-274_1588-273dup
XM_017026467.1:c.1543-274_1543-273dup XP_016881956.1:n.1543-274_1543-273dup
XR_001753633.2:n.1713-274_1713-273dup
XR_001753634.2:n.1649-274_1649-273dup
NM_000400.4:c.1666-274_1666-273dup MANE Select NP_000391.1:n.1666-274_1666-273dup