Canonical Allele Identifier: CA2585785921

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45353380-ATCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353382_45353384del , CM000681.2:g.45353382_45353384del	GRCh38
NC_000019.9:g.45856640_45856642del , CM000681.1:g.45856640_45856642del	GRCh37
NC_000019.8:g.50548480_50548482del	NCBI36
NG_007067.2:g.22205_22207del , LRG_461:g.22205_22207del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1666-49_1666-47del	ENSP00000375808.4:n.1666-49_1666-47del
ENST00000682414.1:c.1666-49_1666-47del	ENSP00000507019.1:n.1666-49_1666-47del
ENST00000682508.1:n.1695-49_1695-47del
ENST00000684218.1:c.*924-49_*924-47del	ENSP00000507804.1:n.*924-49_*924-47del
ENST00000684264.1:n.1222-49_1222-47del
ENST00000684407.1:c.1543-49_1543-47del	ENSP00000507775.1:n.1543-49_1543-47del
ENST00000684458.1:c.*152-49_*152-47del	ENSP00000508260.1:n.*152-49_*152-47del
ENST00000684468.1:n.1378-49_1378-47del
ENST00000391945.10:c.1666-49_1666-47del MANE Select	ENSP00000375809.4:n.1666-49_1666-47del
ENST00000587376.6:c.725-49_725-47del
ENST00000646507.1:n.1763-49_1763-47del
ENST00000391941.6:c.1594-49_1594-47del	ENSP00000375805.2:n.1594-49_1594-47del
ENST00000391942.6:n.837-49_837-47del
ENST00000391944.7:c.1432-49_1432-47del	ENSP00000375808.3:n.1432-49_1432-47del
ENST00000391945.8:c.1666-49_1666-47del	ENSP00000375809.3:n.1666-49_1666-47del
ENST00000587376.5:c.725-49_725-47del
ENST00000588652.5:n.1754-49_1754-47del
NM_000400.3:c.1666-49_1666-47del , LRG_461t1:c.1666-49_1666-47del	NP_000391.1:n.1666-49_1666-47del
XM_011526611.1:c.1588-49_1588-47del	XP_011524913.1:n.1588-49_1588-47del
XR_935763.1:n.1649-49_1649-47del
XM_011526611.2:c.1588-49_1588-47del	XP_011524913.1:n.1588-49_1588-47del
XM_017026467.1:c.1543-49_1543-47del	XP_016881956.1:n.1543-49_1543-47del
XR_001753633.2:n.1713-49_1713-47del
XR_001753634.2:n.1649-49_1649-47del
NM_000400.4:c.1666-49_1666-47del MANE Select	NP_000391.1:n.1666-49_1666-47del