Canonical Allele Identifier: CA2814539642

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353452_45353453insGCCCAGAGACATGGTG , CM000681.2:g.45353452_45353453insGCCCAGAGACATGGTG	GRCh38
NC_000019.9:g.45856710_45856711insGCCCAGAGACATGGTG , CM000681.1:g.45856710_45856711insGCCCAGAGACATGGTG	GRCh37
NC_000019.8:g.50548550_50548551insGCCCAGAGACATGGTG	NCBI36
NG_007067.2:g.22136_22137insACCATGTCTCTGGGCC , LRG_461:g.22136_22137insACCATGTCTCTGGGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1666-118_1666-117insACCATGTCTCTGGGCC	ENSP00000375808.4:n.1666-118_1666-117insACCATGTCTCTGGGCC
ENST00000682414.1:c.1666-118_1666-117insACCATGTCTCTGGGCC	ENSP00000507019.1:n.1666-118_1666-117insACCATGTCTCTGGGCC
ENST00000682508.1:n.1695-118_1695-117insACCATGTCTCTGGGCC
ENST00000684218.1:c.*924-118_*924-117insACCATGTCTCTGGGCC	ENSP00000507804.1:n.*924-118_*924-117insACCATGTCTCTGGGCC
ENST00000684264.1:n.1222-118_1222-117insACCATGTCTCTGGGCC
ENST00000684407.1:c.1543-118_1543-117insACCATGTCTCTGGGCC	ENSP00000507775.1:n.1543-118_1543-117insACCATGTCTCTGGGCC
ENST00000684458.1:c.*152-118_*152-117insACCATGTCTCTGGGCC	ENSP00000508260.1:n.*152-118_*152-117insACCATGTCTCTGGGCC
ENST00000684468.1:n.1378-118_1378-117insACCATGTCTCTGGGCC
ENST00000391945.10:c.1666-118_1666-117insACCATGTCTCTGGGCC MANE Select	ENSP00000375809.4:n.1666-118_1666-117insACCATGTCTCTGGGCC
ENST00000587376.6:c.725-118_725-117insACCATGTCTCTGGGCC
ENST00000646507.1:n.1763-118_1763-117insACCATGTCTCTGGGCC
ENST00000391941.6:c.1594-118_1594-117insACCATGTCTCTGGGCC	ENSP00000375805.2:n.1594-118_1594-117insACCATGTCTCTGGGCC
ENST00000391942.6:n.837-118_837-117insACCATGTCTCTGGGCC
ENST00000391944.7:c.1432-118_1432-117insACCATGTCTCTGGGCC	ENSP00000375808.3:n.1432-118_1432-117insACCATGTCTCTGGGCC
ENST00000391945.8:c.1666-118_1666-117insACCATGTCTCTGGGCC	ENSP00000375809.3:n.1666-118_1666-117insACCATGTCTCTGGGCC
ENST00000587376.5:c.725-118_725-117insACCATGTCTCTGGGCC
ENST00000588652.5:n.1754-118_1754-117insACCATGTCTCTGGGCC
NM_000400.3:c.1666-118_1666-117insACCATGTCTCTGGGCC , LRG_461t1:c.1666-118_1666-117insACCATGTCTCTGGGCC	NP_000391.1:n.1666-118_1666-117insACCATGTCTCTGGGCC
XM_011526611.1:c.1588-118_1588-117insACCATGTCTCTGGGCC	XP_011524913.1:n.1588-118_1588-117insACCATGTCTCTGGGCC
XR_935763.1:n.1649-118_1649-117insACCATGTCTCTGGGCC
XM_011526611.2:c.1588-118_1588-117insACCATGTCTCTGGGCC	XP_011524913.1:n.1588-118_1588-117insACCATGTCTCTGGGCC
XM_017026467.1:c.1543-118_1543-117insACCATGTCTCTGGGCC	XP_016881956.1:n.1543-118_1543-117insACCATGTCTCTGGGCC
XR_001753633.2:n.1713-118_1713-117insACCATGTCTCTGGGCC
XR_001753634.2:n.1649-118_1649-117insACCATGTCTCTGGGCC
NM_000400.4:c.1666-118_1666-117insACCATGTCTCTGGGCC MANE Select	NP_000391.1:n.1666-118_1666-117insACCATGTCTCTGGGCC