Canonical Allele Identifier: CA2541360906

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353559_45353571del , CM000681.2:g.45353559_45353571del	GRCh38
NC_000019.9:g.45856817_45856829del , CM000681.1:g.45856817_45856829del	GRCh37
NC_000019.8:g.50548657_50548669del	NCBI36
NG_007067.2:g.22018_22030del , LRG_461:g.22018_22030del

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.1666-236_1666-224del	ENSP00000375808.4:n.1666-236_1666-224del
ENST00000682414.1:c.1666-236_1666-224del	ENSP00000507019.1:n.1666-236_1666-224del
ENST00000682508.1:n.1695-236_1695-224del
ENST00000684218.1:c.*924-236_*924-224del	ENSP00000507804.1:n.*924-236_*924-224del
ENST00000684264.1:n.1222-236_1222-224del
ENST00000684407.1:c.1543-236_1543-224del	ENSP00000507775.1:n.1543-236_1543-224del
ENST00000684458.1:c.*152-236_*152-224del	ENSP00000508260.1:n.*152-236_*152-224del
ENST00000684468.1:n.1378-236_1378-224del
ENST00000391945.10:c.1666-236_1666-224del MANE Select	ENSP00000375809.4:n.1666-236_1666-224del
ENST00000587376.6:c.725-236_725-224del
ENST00000646507.1:n.1763-236_1763-224del
ENST00000391941.6:c.1594-236_1594-224del	ENSP00000375805.2:n.1594-236_1594-224del
ENST00000391942.6:n.837-236_837-224del
ENST00000391944.7:c.1432-236_1432-224del	ENSP00000375808.3:n.1432-236_1432-224del
ENST00000391945.8:c.1666-236_1666-224del	ENSP00000375809.3:n.1666-236_1666-224del
ENST00000587376.5:c.725-236_725-224del
ENST00000588652.5:n.1754-236_1754-224del
NM_000400.3:c.1666-236_1666-224del , LRG_461t1:c.1666-236_1666-224del	NP_000391.1:n.1666-236_1666-224del
XM_011526611.1:c.1588-236_1588-224del	XP_011524913.1:n.1588-236_1588-224del
XR_935763.1:n.1649-236_1649-224del
XM_011526611.2:c.1588-236_1588-224del	XP_011524913.1:n.1588-236_1588-224del
XM_017026467.1:c.1543-236_1543-224del	XP_016881956.1:n.1543-236_1543-224del
XR_001753633.2:n.1713-236_1713-224del
XR_001753634.2:n.1649-236_1649-224del
NM_000400.4:c.1666-236_1666-224del MANE Select	NP_000391.1:n.1666-236_1666-224del