Canonical Allele Identifier: CA2338389566

Gene: ERCC2

Linked Data

• dbSNP Id: rs1971904319

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353557_45353569del , CM000681.2:g.45353557_45353569del	GRCh38
NC_000019.9:g.45856815_45856827del , CM000681.1:g.45856815_45856827del	GRCh37
NC_000019.8:g.50548655_50548667del	NCBI36
NG_007067.2:g.22025_22037del , LRG_461:g.22025_22037del

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.1666-229_1666-217del	ENSP00000375808.4:n.1666-229_1666-217del
ENST00000682414.1:c.1666-229_1666-217del	ENSP00000507019.1:n.1666-229_1666-217del
ENST00000682508.1:n.1695-229_1695-217del
ENST00000684218.1:c.*924-229_*924-217del	ENSP00000507804.1:n.*924-229_*924-217del
ENST00000684264.1:n.1222-229_1222-217del
ENST00000684407.1:c.1543-229_1543-217del	ENSP00000507775.1:n.1543-229_1543-217del
ENST00000684458.1:c.*152-229_*152-217del	ENSP00000508260.1:n.*152-229_*152-217del
ENST00000684468.1:n.1378-229_1378-217del
ENST00000391945.10:c.1666-229_1666-217del MANE Select	ENSP00000375809.4:n.1666-229_1666-217del
ENST00000587376.6:c.725-229_725-217del
ENST00000646507.1:n.1763-229_1763-217del
ENST00000391941.6:c.1594-229_1594-217del	ENSP00000375805.2:n.1594-229_1594-217del
ENST00000391942.6:n.837-229_837-217del
ENST00000391944.7:c.1432-229_1432-217del	ENSP00000375808.3:n.1432-229_1432-217del
ENST00000391945.8:c.1666-229_1666-217del	ENSP00000375809.3:n.1666-229_1666-217del
ENST00000587376.5:c.725-229_725-217del
ENST00000588652.5:n.1754-229_1754-217del
NM_000400.3:c.1666-229_1666-217del , LRG_461t1:c.1666-229_1666-217del	NP_000391.1:n.1666-229_1666-217del
XM_011526611.1:c.1588-229_1588-217del	XP_011524913.1:n.1588-229_1588-217del
XR_935763.1:n.1649-229_1649-217del
XM_011526611.2:c.1588-229_1588-217del	XP_011524913.1:n.1588-229_1588-217del
XM_017026467.1:c.1543-229_1543-217del	XP_016881956.1:n.1543-229_1543-217del
XR_001753633.2:n.1713-229_1713-217del
XR_001753634.2:n.1649-229_1649-217del
NM_000400.4:c.1666-229_1666-217del MANE Select	NP_000391.1:n.1666-229_1666-217del