Canonical Allele Identifier: CA2585785892

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45353346-C-CCCAGGGAGGTCAGGGTGGGTTCAGGGCACAG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353350_45353380dup , CM000681.2:g.45353350_45353380dup	GRCh38
NC_000019.9:g.45856608_45856638dup , CM000681.1:g.45856608_45856638dup	GRCh37
NC_000019.8:g.50548448_50548478dup	NCBI36
NG_007067.2:g.22211_22241dup , LRG_461:g.22211_22241dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1666-43_1666-13dup	ENSP00000375808.4:n.1666-43_1666-13dup
ENST00000682414.1:c.1666-43_1666-13dup	ENSP00000507019.1:n.1666-43_1666-13dup
ENST00000682508.1:n.1695-43_1695-13dup
ENST00000684218.1:c.*924-43_*924-13dup	ENSP00000507804.1:n.*924-43_*924-13dup
ENST00000684264.1:n.1222-43_1222-13dup
ENST00000684407.1:c.1543-43_1543-13dup	ENSP00000507775.1:n.1543-43_1543-13dup
ENST00000684458.1:c.*152-43_*152-13dup	ENSP00000508260.1:n.*152-43_*152-13dup
ENST00000684468.1:n.1378-43_1378-13dup
ENST00000391945.10:c.1666-43_1666-13dup MANE Select	ENSP00000375809.4:n.1666-43_1666-13dup
ENST00000587376.6:c.725-43_725-13dup
ENST00000646507.1:n.1763-43_1763-13dup
ENST00000391941.6:c.1594-43_1594-13dup	ENSP00000375805.2:n.1594-43_1594-13dup
ENST00000391942.6:n.837-43_837-13dup
ENST00000391944.7:c.1432-43_1432-13dup	ENSP00000375808.3:n.1432-43_1432-13dup
ENST00000391945.8:c.1666-43_1666-13dup	ENSP00000375809.3:n.1666-43_1666-13dup
ENST00000587376.5:c.725-43_725-13dup
ENST00000588652.5:n.1754-43_1754-13dup
NM_000400.3:c.1666-43_1666-13dup , LRG_461t1:c.1666-43_1666-13dup	NP_000391.1:n.1666-43_1666-13dup
XM_011526611.1:c.1588-43_1588-13dup	XP_011524913.1:n.1588-43_1588-13dup
XR_935763.1:n.1649-43_1649-13dup
XM_011526611.2:c.1588-43_1588-13dup	XP_011524913.1:n.1588-43_1588-13dup
XM_017026467.1:c.1543-43_1543-13dup	XP_016881956.1:n.1543-43_1543-13dup
XR_001753633.2:n.1713-43_1713-13dup
XR_001753634.2:n.1649-43_1649-13dup
NM_000400.4:c.1666-43_1666-13dup MANE Select	NP_000391.1:n.1666-43_1666-13dup