Canonical Allele Identifier: CA2512828280

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353815_45353816del , CM000681.2:g.45353815_45353816del	GRCh38
NC_000019.9:g.45857073_45857074del , CM000681.1:g.45857073_45857074del	GRCh37
NC_000019.8:g.50548913_50548914del	NCBI36
NG_007067.2:g.21772_21773del , LRG_461:g.21772_21773del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1666-482_1666-481del	ENSP00000375808.4:n.1666-482_1666-481del
ENST00000682414.1:c.1666-482_1666-481del	ENSP00000507019.1:n.1666-482_1666-481del
ENST00000682508.1:n.1695-482_1695-481del
ENST00000684218.1:c.*924-482_*924-481del	ENSP00000507804.1:n.*924-482_*924-481del
ENST00000684264.1:n.1222-482_1222-481del
ENST00000684407.1:c.1543-482_1543-481del	ENSP00000507775.1:n.1543-482_1543-481del
ENST00000684458.1:c.*152-482_*152-481del	ENSP00000508260.1:n.*152-482_*152-481del
ENST00000684468.1:n.1378-482_1378-481del
ENST00000391945.10:c.1666-482_1666-481del MANE Select	ENSP00000375809.4:n.1666-482_1666-481del
ENST00000587376.6:c.725-482_725-481del
ENST00000646507.1:n.1763-482_1763-481del
ENST00000391941.6:c.1594-482_1594-481del	ENSP00000375805.2:n.1594-482_1594-481del
ENST00000391942.6:n.837-482_837-481del
ENST00000391944.7:c.1432-482_1432-481del	ENSP00000375808.3:n.1432-482_1432-481del
ENST00000391945.8:c.1666-482_1666-481del	ENSP00000375809.3:n.1666-482_1666-481del
ENST00000587376.5:c.725-482_725-481del
ENST00000588652.5:n.1754-482_1754-481del
NM_000400.3:c.1666-482_1666-481del , LRG_461t1:c.1666-482_1666-481del	NP_000391.1:n.1666-482_1666-481del
XM_011526611.1:c.1588-482_1588-481del	XP_011524913.1:n.1588-482_1588-481del
XR_935763.1:n.1649-482_1649-481del
XM_011526611.2:c.1588-482_1588-481del	XP_011524913.1:n.1588-482_1588-481del
XM_017026467.1:c.1543-482_1543-481del	XP_016881956.1:n.1543-482_1543-481del
XR_001753633.2:n.1713-482_1713-481del
XR_001753634.2:n.1649-482_1649-481del
NM_000400.4:c.1666-482_1666-481del MANE Select	NP_000391.1:n.1666-482_1666-481del