Canonical Allele Identifier: CA2338389689

Gene: ERCC2

Linked Data

• dbSNP Id: rs1971913140

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353739_45353740del , CM000681.2:g.45353739_45353740del	GRCh38
NC_000019.9:g.45856997_45856998del , CM000681.1:g.45856997_45856998del	GRCh37
NC_000019.8:g.50548837_50548838del	NCBI36
NG_007067.2:g.21853_21854del , LRG_461:g.21853_21854del

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.1666-401_1666-400del	ENSP00000375808.4:n.1666-401_1666-400del
ENST00000682414.1:c.1666-401_1666-400del	ENSP00000507019.1:n.1666-401_1666-400del
ENST00000682508.1:n.1695-401_1695-400del
ENST00000684218.1:c.*924-401_*924-400del	ENSP00000507804.1:n.*924-401_*924-400del
ENST00000684264.1:n.1222-401_1222-400del
ENST00000684407.1:c.1543-401_1543-400del	ENSP00000507775.1:n.1543-401_1543-400del
ENST00000684458.1:c.*152-401_*152-400del	ENSP00000508260.1:n.*152-401_*152-400del
ENST00000684468.1:n.1378-401_1378-400del
ENST00000391945.10:c.1666-401_1666-400del MANE Select	ENSP00000375809.4:n.1666-401_1666-400del
ENST00000587376.6:c.725-401_725-400del
ENST00000646507.1:n.1763-401_1763-400del
ENST00000391941.6:c.1594-401_1594-400del	ENSP00000375805.2:n.1594-401_1594-400del
ENST00000391942.6:n.837-401_837-400del
ENST00000391944.7:c.1432-401_1432-400del	ENSP00000375808.3:n.1432-401_1432-400del
ENST00000391945.8:c.1666-401_1666-400del	ENSP00000375809.3:n.1666-401_1666-400del
ENST00000587376.5:c.725-401_725-400del
ENST00000588652.5:n.1754-401_1754-400del
NM_000400.3:c.1666-401_1666-400del , LRG_461t1:c.1666-401_1666-400del	NP_000391.1:n.1666-401_1666-400del
XM_011526611.1:c.1588-401_1588-400del	XP_011524913.1:n.1588-401_1588-400del
XR_935763.1:n.1649-401_1649-400del
XM_011526611.2:c.1588-401_1588-400del	XP_011524913.1:n.1588-401_1588-400del
XM_017026467.1:c.1543-401_1543-400del	XP_016881956.1:n.1543-401_1543-400del
XR_001753633.2:n.1713-401_1713-400del
XR_001753634.2:n.1649-401_1649-400del
NM_000400.4:c.1666-401_1666-400del MANE Select	NP_000391.1:n.1666-401_1666-400del