Canonical Allele Identifier: CA2814539641

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353437_45353438insCCACATCTCA , CM000681.2:g.45353437_45353438insCCACATCTCA	GRCh38
NC_000019.9:g.45856695_45856696insCCACATCTCA , CM000681.1:g.45856695_45856696insCCACATCTCA	GRCh37
NC_000019.8:g.50548535_50548536insCCACATCTCA	NCBI36
NG_007067.2:g.22154_22155insATGTGGTGAG , LRG_461:g.22154_22155insATGTGGTGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1666-100_1666-99insATGTGGTGAG	ENSP00000375808.4:n.1666-100_1666-99insATGTGGTGAG
ENST00000682414.1:c.1666-100_1666-99insATGTGGTGAG	ENSP00000507019.1:n.1666-100_1666-99insATGTGGTGAG
ENST00000682508.1:n.1695-100_1695-99insATGTGGTGAG
ENST00000684218.1:c.*924-100_*924-99insATGTGGTGAG	ENSP00000507804.1:n.*924-100_*924-99insATGTGGTGAG
ENST00000684264.1:n.1222-100_1222-99insATGTGGTGAG
ENST00000684407.1:c.1543-100_1543-99insATGTGGTGAG	ENSP00000507775.1:n.1543-100_1543-99insATGTGGTGAG
ENST00000684458.1:c.*152-100_*152-99insATGTGGTGAG	ENSP00000508260.1:n.*152-100_*152-99insATGTGGTGAG
ENST00000684468.1:n.1378-100_1378-99insATGTGGTGAG
ENST00000391945.10:c.1666-100_1666-99insATGTGGTGAG MANE Select	ENSP00000375809.4:n.1666-100_1666-99insATGTGGTGAG
ENST00000587376.6:c.725-100_725-99insATGTGGTGAG
ENST00000646507.1:n.1763-100_1763-99insATGTGGTGAG
ENST00000391941.6:c.1594-100_1594-99insATGTGGTGAG	ENSP00000375805.2:n.1594-100_1594-99insATGTGGTGAG
ENST00000391942.6:n.837-100_837-99insATGTGGTGAG
ENST00000391944.7:c.1432-100_1432-99insATGTGGTGAG	ENSP00000375808.3:n.1432-100_1432-99insATGTGGTGAG
ENST00000391945.8:c.1666-100_1666-99insATGTGGTGAG	ENSP00000375809.3:n.1666-100_1666-99insATGTGGTGAG
ENST00000587376.5:c.725-100_725-99insATGTGGTGAG
ENST00000588652.5:n.1754-100_1754-99insATGTGGTGAG
NM_000400.3:c.1666-100_1666-99insATGTGGTGAG , LRG_461t1:c.1666-100_1666-99insATGTGGTGAG	NP_000391.1:n.1666-100_1666-99insATGTGGTGAG
XM_011526611.1:c.1588-100_1588-99insATGTGGTGAG	XP_011524913.1:n.1588-100_1588-99insATGTGGTGAG
XR_935763.1:n.1649-100_1649-99insATGTGGTGAG
XM_011526611.2:c.1588-100_1588-99insATGTGGTGAG	XP_011524913.1:n.1588-100_1588-99insATGTGGTGAG
XM_017026467.1:c.1543-100_1543-99insATGTGGTGAG	XP_016881956.1:n.1543-100_1543-99insATGTGGTGAG
XR_001753633.2:n.1713-100_1713-99insATGTGGTGAG
XR_001753634.2:n.1649-100_1649-99insATGTGGTGAG
NM_000400.4:c.1666-100_1666-99insATGTGGTGAG MANE Select	NP_000391.1:n.1666-100_1666-99insATGTGGTGAG