Canonical Allele Identifier: CA2338389494

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353454_45353457delinsTGTG , CM000681.2:g.45353454_45353457delinsTGTG	GRCh38
NC_000019.9:g.45856712_45856715delinsTGTG , CM000681.1:g.45856712_45856715delinsTGTG	GRCh37
NC_000019.8:g.50548552_50548555delinsTGTG	NCBI36
NG_007067.2:g.22131_22134delinsCACA , LRG_461:g.22131_22134delinsCACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1666-123_1666-120delinsCACA	ENSP00000375808.4:n.1666-123_1666-120delinsCACA
ENST00000682414.1:c.1666-123_1666-120delinsCACA	ENSP00000507019.1:n.1666-123_1666-120delinsCACA
ENST00000682508.1:n.1695-123_1695-120delinsCACA
ENST00000684218.1:c.*924-123_*924-120delinsCACA	ENSP00000507804.1:n.*924-123_*924-120delinsCACA
ENST00000684264.1:n.1222-123_1222-120delinsCACA
ENST00000684407.1:c.1543-123_1543-120delinsCACA	ENSP00000507775.1:n.1543-123_1543-120delinsCACA
ENST00000684458.1:c.*152-123_*152-120delinsCACA	ENSP00000508260.1:n.*152-123_*152-120delinsCACA
ENST00000684468.1:n.1378-123_1378-120delinsCACA
ENST00000391945.10:c.1666-123_1666-120delinsCACA MANE Select	ENSP00000375809.4:n.1666-123_1666-120delinsCACA
ENST00000587376.6:c.725-123_725-120delinsCACA
ENST00000646507.1:n.1763-123_1763-120delinsCACA
ENST00000391941.6:c.1594-123_1594-120delinsCACA	ENSP00000375805.2:n.1594-123_1594-120delinsCACA
ENST00000391942.6:n.837-123_837-120delinsCACA
ENST00000391944.7:c.1432-123_1432-120delinsCACA	ENSP00000375808.3:n.1432-123_1432-120delinsCACA
ENST00000391945.8:c.1666-123_1666-120delinsCACA	ENSP00000375809.3:n.1666-123_1666-120delinsCACA
ENST00000587376.5:c.725-123_725-120delinsCACA
ENST00000588652.5:n.1754-123_1754-120delinsCACA
NM_000400.3:c.1666-123_1666-120delinsCACA , LRG_461t1:c.1666-123_1666-120delinsCACA	NP_000391.1:n.1666-123_1666-120delinsCACA
XM_011526611.1:c.1588-123_1588-120delinsCACA	XP_011524913.1:n.1588-123_1588-120delinsCACA
XR_935763.1:n.1649-123_1649-120delinsCACA
XM_011526611.2:c.1588-123_1588-120delinsCACA	XP_011524913.1:n.1588-123_1588-120delinsCACA
XM_017026467.1:c.1543-123_1543-120delinsCACA	XP_016881956.1:n.1543-123_1543-120delinsCACA
XR_001753633.2:n.1713-123_1713-120delinsCACA
XR_001753634.2:n.1649-123_1649-120delinsCACA
NM_000400.4:c.1666-123_1666-120delinsCACA MANE Select	NP_000391.1:n.1666-123_1666-120delinsCACA