Canonical Allele Identifier: CA2338389535

Gene: ERCC2

Linked Data

• dbSNP Id: rs1971902066

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353502_45353503del , CM000681.2:g.45353502_45353503del	GRCh38
NC_000019.9:g.45856760_45856761del , CM000681.1:g.45856760_45856761del	GRCh37
NC_000019.8:g.50548600_50548601del	NCBI36
NG_007067.2:g.22085_22086del , LRG_461:g.22085_22086del

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.1666-169_1666-168del	ENSP00000375808.4:n.1666-169_1666-168del
ENST00000682414.1:c.1666-169_1666-168del	ENSP00000507019.1:n.1666-169_1666-168del
ENST00000682508.1:n.1695-169_1695-168del
ENST00000684218.1:c.*924-169_*924-168del	ENSP00000507804.1:n.*924-169_*924-168del
ENST00000684264.1:n.1222-169_1222-168del
ENST00000684407.1:c.1543-169_1543-168del	ENSP00000507775.1:n.1543-169_1543-168del
ENST00000684458.1:c.*152-169_*152-168del	ENSP00000508260.1:n.*152-169_*152-168del
ENST00000684468.1:n.1378-169_1378-168del
ENST00000391945.10:c.1666-169_1666-168del MANE Select	ENSP00000375809.4:n.1666-169_1666-168del
ENST00000587376.6:c.725-169_725-168del
ENST00000646507.1:n.1763-169_1763-168del
ENST00000391941.6:c.1594-169_1594-168del	ENSP00000375805.2:n.1594-169_1594-168del
ENST00000391942.6:n.837-169_837-168del
ENST00000391944.7:c.1432-169_1432-168del	ENSP00000375808.3:n.1432-169_1432-168del
ENST00000391945.8:c.1666-169_1666-168del	ENSP00000375809.3:n.1666-169_1666-168del
ENST00000587376.5:c.725-169_725-168del
ENST00000588652.5:n.1754-169_1754-168del
NM_000400.3:c.1666-169_1666-168del , LRG_461t1:c.1666-169_1666-168del	NP_000391.1:n.1666-169_1666-168del
XM_011526611.1:c.1588-169_1588-168del	XP_011524913.1:n.1588-169_1588-168del
XR_935763.1:n.1649-169_1649-168del
XM_011526611.2:c.1588-169_1588-168del	XP_011524913.1:n.1588-169_1588-168del
XM_017026467.1:c.1543-169_1543-168del	XP_016881956.1:n.1543-169_1543-168del
XR_001753633.2:n.1713-169_1713-168del
XR_001753634.2:n.1649-169_1649-168del
NM_000400.4:c.1666-169_1666-168del MANE Select	NP_000391.1:n.1666-169_1666-168del