Canonical Allele Identifier: CA2338389847

Gene: ERCC2

Linked Data

• dbSNP Id: rs1971924035

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353980T>C , CM000681.2:g.45353980T>C	GRCh38
NC_000019.9:g.45857238T>C , CM000681.1:g.45857238T>C	GRCh37
NC_000019.8:g.50549078T>C	NCBI36
NG_007067.2:g.21608A>G , LRG_461:g.21608A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.1666-646A>G	ENSP00000375808.4:n.1666-646A>G
ENST00000682414.1:c.1666-646A>G	ENSP00000507019.1:n.1666-646A>G
ENST00000682508.1:n.1695-646A>G
ENST00000684218.1:c.*924-646A>G	ENSP00000507804.1:n.*924-646A>G
ENST00000684264.1:n.1222-646A>G
ENST00000684407.1:c.1543-646A>G	ENSP00000507775.1:n.1543-646A>G
ENST00000684458.1:c.*152-646A>G	ENSP00000508260.1:n.*152-646A>G
ENST00000684468.1:n.1378-646A>G
ENST00000391945.10:c.1666-646A>G MANE Select	ENSP00000375809.4:n.1666-646A>G
ENST00000587376.6:c.725-646A>G
ENST00000646507.1:n.1763-646A>G
ENST00000391941.6:c.1594-646A>G	ENSP00000375805.2:n.1594-646A>G
ENST00000391942.6:n.837-646A>G
ENST00000391944.7:c.1432-646A>G	ENSP00000375808.3:n.1432-646A>G
ENST00000391945.8:c.1666-646A>G	ENSP00000375809.3:n.1666-646A>G
ENST00000587376.5:c.725-646A>G
ENST00000588652.5:n.1754-646A>G
NM_000400.3:c.1666-646A>G , LRG_461t1:c.1666-646A>G	NP_000391.1:n.1666-646A>G
XM_011526611.1:c.1588-646A>G	XP_011524913.1:n.1588-646A>G
XR_935763.1:n.1649-646A>G
XM_011526611.2:c.1588-646A>G	XP_011524913.1:n.1588-646A>G
XM_017026467.1:c.1543-646A>G	XP_016881956.1:n.1543-646A>G
XR_001753633.2:n.1713-646A>G
XR_001753634.2:n.1649-646A>G
NM_000400.4:c.1666-646A>G MANE Select	NP_000391.1:n.1666-646A>G