Canonical Allele Identifier: CA882717232

Gene: ERCC2

Linked Data

• dbSNP Id: rs1296313724
• gnomAD v3: 19-45353921-T-TA
• gnomAD v4: 19-45353921-T-TA
• MyVariant Identifiers: chr19:g.45857179_45857180insA (hg19) ; chr19:g.45353921_45353922insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353921_45353922insA , CM000681.2:g.45353921_45353922insA	GRCh38
NC_000019.9:g.45857179_45857180insA , CM000681.1:g.45857179_45857180insA	GRCh37
NC_000019.8:g.50549019_50549020insA	NCBI36
NG_007067.2:g.21666_21667insT , LRG_461:g.21666_21667insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.1666-588_1666-587insT	ENSP00000375808.4:n.1666-588_1666-587insT...
ENST00000682414.1:c.1666-588_1666-587insT	ENSP00000507019.1:n.1666-588_1666-587insT...
ENST00000682508.1:n.1695-588_1695-587insT
ENST00000684218.1:c.*924-588_*924-587insT	ENSP00000507804.1:n.*924-588_*924-587insT...
ENST00000684264.1:n.1222-588_1222-587insT
ENST00000684407.1:c.1543-588_1543-587insT	ENSP00000507775.1:n.1543-588_1543-587insT...
ENST00000684458.1:c.*152-588_*152-587insT	ENSP00000508260.1:n.*152-588_*152-587insT...
ENST00000684468.1:n.1378-588_1378-587insT
ENST00000391945.10:c.1666-588_1666-587insT MANE Select	ENSP00000375809.4:n.1666-588_1666-587insT...
ENST00000587376.6:c.725-588_725-587insT
ENST00000646507.1:n.1763-588_1763-587insT
ENST00000391941.6:c.1594-588_1594-587insT	ENSP00000375805.2:n.1594-588_1594-587insT...
ENST00000391942.6:n.837-588_837-587insT
ENST00000391944.7:c.1432-588_1432-587insT	ENSP00000375808.3:n.1432-588_1432-587insT...
ENST00000391945.8:c.1666-588_1666-587insT	ENSP00000375809.3:n.1666-588_1666-587insT...
ENST00000587376.5:c.725-588_725-587insT
ENST00000588652.5:n.1754-588_1754-587insT
NM_000400.3:c.1666-588_1666-587insT , LRG_461t1:c.1666-588_1666-587insT	NP_000391.1:n.1666-588_1666-587insT
XM_011526611.1:c.1588-588_1588-587insT	XP_011524913.1:n.1588-588_1588-587insT
XR_935763.1:n.1649-588_1649-587insT
XM_011526611.2:c.1588-588_1588-587insT	XP_011524913.1:n.1588-588_1588-587insT
XM_017026467.1:c.1543-588_1543-587insT	XP_016881956.1:n.1543-588_1543-587insT
XR_001753633.2:n.1713-588_1713-587insT
XR_001753634.2:n.1649-588_1649-587insT
NM_000400.4:c.1666-588_1666-587insT MANE Select	NP_000391.1:n.1666-588_1666-587insT