Canonical Allele Identifier: CA2519404599

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353813_45353814insGG , CM000681.2:g.45353813_45353814insGG	GRCh38
NC_000019.9:g.45857071_45857072insGG , CM000681.1:g.45857071_45857072insGG	GRCh37
NC_000019.8:g.50548911_50548912insGG	NCBI36
NG_007067.2:g.21774_21775insCC , LRG_461:g.21774_21775insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1666-480_1666-479insCC	ENSP00000375808.4:n.1666-480_1666-479insCC
ENST00000682414.1:c.1666-480_1666-479insCC	ENSP00000507019.1:n.1666-480_1666-479insCC
ENST00000682508.1:n.1695-480_1695-479insCC
ENST00000684218.1:c.*924-480_*924-479insCC	ENSP00000507804.1:n.*924-480_*924-479insCC
ENST00000684264.1:n.1222-480_1222-479insCC
ENST00000684407.1:c.1543-480_1543-479insCC	ENSP00000507775.1:n.1543-480_1543-479insCC
ENST00000684458.1:c.*152-480_*152-479insCC	ENSP00000508260.1:n.*152-480_*152-479insCC
ENST00000684468.1:n.1378-480_1378-479insCC
ENST00000391945.10:c.1666-480_1666-479insCC MANE Select	ENSP00000375809.4:n.1666-480_1666-479insCC
ENST00000587376.6:c.725-480_725-479insCC
ENST00000646507.1:n.1763-480_1763-479insCC
ENST00000391941.6:c.1594-480_1594-479insCC	ENSP00000375805.2:n.1594-480_1594-479insCC
ENST00000391942.6:n.837-480_837-479insCC
ENST00000391944.7:c.1432-480_1432-479insCC	ENSP00000375808.3:n.1432-480_1432-479insCC
ENST00000391945.8:c.1666-480_1666-479insCC	ENSP00000375809.3:n.1666-480_1666-479insCC
ENST00000587376.5:c.725-480_725-479insCC
ENST00000588652.5:n.1754-480_1754-479insCC
NM_000400.3:c.1666-480_1666-479insCC , LRG_461t1:c.1666-480_1666-479insCC	NP_000391.1:n.1666-480_1666-479insCC
XM_011526611.1:c.1588-480_1588-479insCC	XP_011524913.1:n.1588-480_1588-479insCC
XR_935763.1:n.1649-480_1649-479insCC
XM_011526611.2:c.1588-480_1588-479insCC	XP_011524913.1:n.1588-480_1588-479insCC
XM_017026467.1:c.1543-480_1543-479insCC	XP_016881956.1:n.1543-480_1543-479insCC
XR_001753633.2:n.1713-480_1713-479insCC
XR_001753634.2:n.1649-480_1649-479insCC
NM_000400.4:c.1666-480_1666-479insCC MANE Select	NP_000391.1:n.1666-480_1666-479insCC