Canonical Allele Identifier: CA996296198

Gene: ERCC2

Linked Data

• dbSNP Id: rs1971907736
• gnomAD v3: 19-45353623-CAG-C
• gnomAD v4: 19-45353623-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353624_45353625del , CM000681.2:g.45353624_45353625del	GRCh38
NC_000019.9:g.45856882_45856883del , CM000681.1:g.45856882_45856883del	GRCh37
NC_000019.8:g.50548722_50548723del	NCBI36
NG_007067.2:g.21963_21964del , LRG_461:g.21963_21964del

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.1666-291_1666-290del	ENSP00000375808.4:n.1666-291_1666-290del
ENST00000682414.1:c.1666-291_1666-290del	ENSP00000507019.1:n.1666-291_1666-290del
ENST00000682508.1:n.1695-291_1695-290del
ENST00000684218.1:c.*924-291_*924-290del	ENSP00000507804.1:n.*924-291_*924-290del
ENST00000684264.1:n.1222-291_1222-290del
ENST00000684407.1:c.1543-291_1543-290del	ENSP00000507775.1:n.1543-291_1543-290del
ENST00000684458.1:c.*152-291_*152-290del	ENSP00000508260.1:n.*152-291_*152-290del
ENST00000684468.1:n.1378-291_1378-290del
ENST00000391945.10:c.1666-291_1666-290del MANE Select	ENSP00000375809.4:n.1666-291_1666-290del
ENST00000587376.6:c.725-291_725-290del
ENST00000646507.1:n.1763-291_1763-290del
ENST00000391941.6:c.1594-291_1594-290del	ENSP00000375805.2:n.1594-291_1594-290del
ENST00000391942.6:n.837-291_837-290del
ENST00000391944.7:c.1432-291_1432-290del	ENSP00000375808.3:n.1432-291_1432-290del
ENST00000391945.8:c.1666-291_1666-290del	ENSP00000375809.3:n.1666-291_1666-290del
ENST00000587376.5:c.725-291_725-290del
ENST00000588652.5:n.1754-291_1754-290del
NM_000400.3:c.1666-291_1666-290del , LRG_461t1:c.1666-291_1666-290del	NP_000391.1:n.1666-291_1666-290del
XM_011526611.1:c.1588-291_1588-290del	XP_011524913.1:n.1588-291_1588-290del
XR_935763.1:n.1649-291_1649-290del
XM_011526611.2:c.1588-291_1588-290del	XP_011524913.1:n.1588-291_1588-290del
XM_017026467.1:c.1543-291_1543-290del	XP_016881956.1:n.1543-291_1543-290del
XR_001753633.2:n.1713-291_1713-290del
XR_001753634.2:n.1649-291_1649-290del
NM_000400.4:c.1666-291_1666-290del MANE Select	NP_000391.1:n.1666-291_1666-290del