Canonical Allele Identifier: CA2338389865

Gene: ERCC2

Linked Data

• dbSNP Id: rs1971925226

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45354009_45354019del , CM000681.2:g.45354009_45354019del	GRCh38
NC_000019.9:g.45857267_45857277del , CM000681.1:g.45857267_45857277del	GRCh37
NC_000019.8:g.50549107_50549117del	NCBI36
NG_007067.2:g.21574_21584del , LRG_461:g.21574_21584del

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.1666-680_1666-670del	ENSP00000375808.4:n.1666-680_1666-670del
ENST00000682414.1:c.1666-680_1666-670del	ENSP00000507019.1:n.1666-680_1666-670del
ENST00000682508.1:n.1695-680_1695-670del
ENST00000684218.1:c.*924-680_*924-670del	ENSP00000507804.1:n.*924-680_*924-670del
ENST00000684264.1:n.1222-680_1222-670del
ENST00000684407.1:c.1543-680_1543-670del	ENSP00000507775.1:n.1543-680_1543-670del
ENST00000684458.1:c.*152-680_*152-670del	ENSP00000508260.1:n.*152-680_*152-670del
ENST00000684468.1:n.1378-680_1378-670del
ENST00000391945.10:c.1666-680_1666-670del MANE Select	ENSP00000375809.4:n.1666-680_1666-670del
ENST00000587376.6:c.725-680_725-670del
ENST00000646507.1:n.1763-680_1763-670del
ENST00000391941.6:c.1594-680_1594-670del	ENSP00000375805.2:n.1594-680_1594-670del
ENST00000391942.6:n.837-680_837-670del
ENST00000391944.7:c.1432-680_1432-670del	ENSP00000375808.3:n.1432-680_1432-670del
ENST00000391945.8:c.1666-680_1666-670del	ENSP00000375809.3:n.1666-680_1666-670del
ENST00000587376.5:c.725-680_725-670del
ENST00000588652.5:n.1754-680_1754-670del
NM_000400.3:c.1666-680_1666-670del , LRG_461t1:c.1666-680_1666-670del	NP_000391.1:n.1666-680_1666-670del
XM_011526611.1:c.1588-680_1588-670del	XP_011524913.1:n.1588-680_1588-670del
XR_935763.1:n.1649-680_1649-670del
XM_011526611.2:c.1588-680_1588-670del	XP_011524913.1:n.1588-680_1588-670del
XM_017026467.1:c.1543-680_1543-670del	XP_016881956.1:n.1543-680_1543-670del
XR_001753633.2:n.1713-680_1713-670del
XR_001753634.2:n.1649-680_1649-670del
NM_000400.4:c.1666-680_1666-670del MANE Select	NP_000391.1:n.1666-680_1666-670del