Canonical Allele Identifier: CA2338389497

Gene: ERCC2

Linked Data

• dbSNP Id: rs1971899200

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353459_45353471del , CM000681.2:g.45353459_45353471del	GRCh38
NC_000019.9:g.45856717_45856729del , CM000681.1:g.45856717_45856729del	GRCh37
NC_000019.8:g.50548557_50548569del	NCBI36
NG_007067.2:g.22121_22133del , LRG_461:g.22121_22133del

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.1666-133_1666-121del	ENSP00000375808.4:n.1666-133_1666-121del
ENST00000682414.1:c.1666-133_1666-121del	ENSP00000507019.1:n.1666-133_1666-121del
ENST00000682508.1:n.1695-133_1695-121del
ENST00000684218.1:c.*924-133_*924-121del	ENSP00000507804.1:n.*924-133_*924-121del
ENST00000684264.1:n.1222-133_1222-121del
ENST00000684407.1:c.1543-133_1543-121del	ENSP00000507775.1:n.1543-133_1543-121del
ENST00000684458.1:c.*152-133_*152-121del	ENSP00000508260.1:n.*152-133_*152-121del
ENST00000684468.1:n.1378-133_1378-121del
ENST00000391945.10:c.1666-133_1666-121del MANE Select	ENSP00000375809.4:n.1666-133_1666-121del
ENST00000587376.6:c.725-133_725-121del
ENST00000646507.1:n.1763-133_1763-121del
ENST00000391941.6:c.1594-133_1594-121del	ENSP00000375805.2:n.1594-133_1594-121del
ENST00000391942.6:n.837-133_837-121del
ENST00000391944.7:c.1432-133_1432-121del	ENSP00000375808.3:n.1432-133_1432-121del
ENST00000391945.8:c.1666-133_1666-121del	ENSP00000375809.3:n.1666-133_1666-121del
ENST00000587376.5:c.725-133_725-121del
ENST00000588652.5:n.1754-133_1754-121del
NM_000400.3:c.1666-133_1666-121del , LRG_461t1:c.1666-133_1666-121del	NP_000391.1:n.1666-133_1666-121del
XM_011526611.1:c.1588-133_1588-121del	XP_011524913.1:n.1588-133_1588-121del
XR_935763.1:n.1649-133_1649-121del
XM_011526611.2:c.1588-133_1588-121del	XP_011524913.1:n.1588-133_1588-121del
XM_017026467.1:c.1543-133_1543-121del	XP_016881956.1:n.1543-133_1543-121del
XR_001753633.2:n.1713-133_1713-121del
XR_001753634.2:n.1649-133_1649-121del
NM_000400.4:c.1666-133_1666-121del MANE Select	NP_000391.1:n.1666-133_1666-121del