Canonical Allele Identifier: CA2338389456

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353378_45353380delinsCCA , CM000681.2:g.45353378_45353380delinsCCA	GRCh38
NC_000019.9:g.45856636_45856638delinsCCA , CM000681.1:g.45856636_45856638delinsCCA	GRCh37
NC_000019.8:g.50548476_50548478delinsCCA	NCBI36
NG_007067.2:g.22208_22210delinsTGG , LRG_461:g.22208_22210delinsTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1666-46_1666-44delinsTGG	ENSP00000375808.4:n.1666-46_1666-44delinsTGG
ENST00000682414.1:c.1666-46_1666-44delinsTGG	ENSP00000507019.1:n.1666-46_1666-44delinsTGG
ENST00000682508.1:n.1695-46_1695-44delinsTGG
ENST00000684218.1:c.*924-46_*924-44delinsTGG	ENSP00000507804.1:n.*924-46_*924-44delinsTGG
ENST00000684264.1:n.1222-46_1222-44delinsTGG
ENST00000684407.1:c.1543-46_1543-44delinsTGG	ENSP00000507775.1:n.1543-46_1543-44delinsTGG
ENST00000684458.1:c.*152-46_*152-44delinsTGG	ENSP00000508260.1:n.*152-46_*152-44delinsTGG
ENST00000684468.1:n.1378-46_1378-44delinsTGG
ENST00000391945.10:c.1666-46_1666-44delinsTGG MANE Select	ENSP00000375809.4:n.1666-46_1666-44delinsTGG
ENST00000587376.6:c.725-46_725-44delinsTGG
ENST00000646507.1:n.1763-46_1763-44delinsTGG
ENST00000391941.6:c.1594-46_1594-44delinsTGG	ENSP00000375805.2:n.1594-46_1594-44delinsTGG
ENST00000391942.6:n.837-46_837-44delinsTGG
ENST00000391944.7:c.1432-46_1432-44delinsTGG	ENSP00000375808.3:n.1432-46_1432-44delinsTGG
ENST00000391945.8:c.1666-46_1666-44delinsTGG	ENSP00000375809.3:n.1666-46_1666-44delinsTGG
ENST00000587376.5:c.725-46_725-44delinsTGG
ENST00000588652.5:n.1754-46_1754-44delinsTGG
NM_000400.3:c.1666-46_1666-44delinsTGG , LRG_461t1:c.1666-46_1666-44delinsTGG	NP_000391.1:n.1666-46_1666-44delinsTGG
XM_011526611.1:c.1588-46_1588-44delinsTGG	XP_011524913.1:n.1588-46_1588-44delinsTGG
XR_935763.1:n.1649-46_1649-44delinsTGG
XM_011526611.2:c.1588-46_1588-44delinsTGG	XP_011524913.1:n.1588-46_1588-44delinsTGG
XM_017026467.1:c.1543-46_1543-44delinsTGG	XP_016881956.1:n.1543-46_1543-44delinsTGG
XR_001753633.2:n.1713-46_1713-44delinsTGG
XR_001753634.2:n.1649-46_1649-44delinsTGG
NM_000400.4:c.1666-46_1666-44delinsTGG MANE Select	NP_000391.1:n.1666-46_1666-44delinsTGG